Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito
Identifieur interne : 006C22 ( Istex/Corpus ); précédent : 006C21; suivant : 006C23Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito
Auteurs : Virginia P. Sybert ; Roberta A. Pagon ; Michael Donlan ; Cynthia M. BradleySource :
- The Journal of Pediatrics [ 0022-3476 ] ; 1990.
Abstract
Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.
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DOI: 10.1016/S0022-3476(05)81606-3
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Sybert, MD, Division of Medical Genetics, Children's Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.</mods:affiliation></affiliation></author><author><name sortKey="Pagon, Roberta A" sort="Pagon, Roberta A" uniqKey="Pagon R" first="Roberta A." last="Pagon">Roberta A. Pagon</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation></author><author><name sortKey="Donlan, Michael" sort="Donlan, Michael" uniqKey="Donlan M" first="Michael" last="Donlan">Michael Donlan</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation></author><author><name sortKey="Bradley, Cynthia M" sort="Bradley, Cynthia M" uniqKey="Bradley C" first="Cynthia M." last="Bradley">Cynthia M. Bradley</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:E6865E9D7A726711F97DACB09E699970FB7F97AA</idno><date when="1990" year="1990">1990</date><idno type="doi">10.1016/S0022-3476(05)81606-3</idno><idno type="url">https://api.istex.fr/document/E6865E9D7A726711F97DACB09E699970FB7F97AA/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">006C22</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">006C22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito</title><author><name sortKey="Sybert, Virginia P" sort="Sybert, Virginia P" uniqKey="Sybert V" first="Virginia P." last="Sybert">Virginia P. Sybert</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Reprint requests: Virginia P. Sybert, MD, Division of Medical Genetics, Children's Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.</mods:affiliation></affiliation></author><author><name sortKey="Pagon, Roberta A" sort="Pagon, Roberta A" uniqKey="Pagon R" first="Roberta A." last="Pagon">Roberta A. Pagon</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation></author><author><name sortKey="Donlan, Michael" sort="Donlan, Michael" uniqKey="Donlan M" first="Michael" last="Donlan">Michael Donlan</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation></author><author><name sortKey="Bradley, Cynthia M" sort="Bradley, Cynthia M" uniqKey="Bradley C" first="Cynthia M." last="Bradley">Cynthia M. Bradley</name><affiliation><mods:affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>University of Washington School of Medicine, Seattle, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">The Journal of Pediatrics</title><title level="j" type="abbrev">YMPD</title><idno type="ISSN">0022-3476</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1990">1990</date><biblScope unit="volume">116</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="581">581</biblScope><biblScope unit="page" to="586">586</biblScope></imprint><idno type="ISSN">0022-3476</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-3476</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.</div></front></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>hypomelanosis</json:string><json:string>abnormality</json:string><json:string>chromosomal</json:string><json:string>mosaicism</json:string><json:string>hypopigmentation</json:string><json:string>genet</json:string><json:string>pigmenti</json:string><json:string>pigmentary</json:string><json:string>chromosome</json:string><json:string>swirly</json:string><json:string>malformation</json:string><json:string>fibroblast</json:string><json:string>karyotype</json:string><json:string>achromians</json:string><json:string>dermatol</json:string><json:string>incontinentia</json:string><json:string>hyperpigmentation</json:string><json:string>pigmentary abnormalities</json:string><json:string>translocation</json:string><json:string>chromosomal abnormalities</json:string><json:string>chromosomal mosaicism</json:string><json:string>short stature</json:string><json:string>swirly hypopigmentation</json:string><json:string>skin samples</json:string><json:string>incontinentia pigmenti achromians</json:string><json:string>incontinentia pigmenti</json:string><json:string>syndrome</json:string><json:string>mental retardation</json:string><json:string>mosaic tetrasomy</json:string><json:string>structural malformations</json:string><json:string>pediatrics april</json:string><json:string>chromosome abnormalities</json:string><json:string>chromosomal aberration</json:string><json:string>lncontinentia pigmenti achromians</json:string><json:string>multiple tissues</json:string><json:string>clin dysmorphol</json:string><json:string>arch dermatol</json:string><json:string>developmental delay</json:string><json:string>mosaic</json:string></teeft></keywords><author><json:item><name>Virginia P. Sybert MD</name><affiliations><json:string>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</json:string><json:string>University of Washington School of Medicine, Seattle, USA</json:string><json:string>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</json:string><json:string>Reprint requests: Virginia P. Sybert, MD, Division of Medical Genetics, Children's Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.</json:string></affiliations></json:item><json:item><name>Roberta A. Pagon MD</name><affiliations><json:string>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</json:string><json:string>University of Washington School of Medicine, Seattle, USA</json:string><json:string>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</json:string></affiliations></json:item><json:item><name>Michael Donlan MD</name><affiliations><json:string>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</json:string><json:string>University of Washington School of Medicine, Seattle, USA</json:string><json:string>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</json:string></affiliations></json:item><json:item><name>Cynthia M. Bradley MS</name><affiliations><json:string>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</json:string><json:string>University of Washington School of Medicine, Seattle, USA</json:string><json:string>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</json:string></affiliations></json:item></author><articleId><json:string>05816063</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><abstract>Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.</abstract><qualityIndicators><score>4.651</score><pdfVersion>1.3</pdfVersion><pdfPageSize>540 x 777.28 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>1226</abstractCharCount><pdfWordCount>2755</pdfWordCount><pdfCharCount>18653</pdfCharCount><pdfPageCount>6</pdfPageCount><abstractWordCount>158</abstractWordCount></qualityIndicators><title>Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito</title><pii><json:string>S0022-3476(05)81606-3</json:string></pii><genre><json:string>research-article</json:string></genre><host><title>The Journal of Pediatrics</title><language><json:string>unknown</json:string></language><publicationDate>1990</publicationDate><issn><json:string>0022-3476</json:string></issn><pii><json:string>S0022-3476(05)X8591-2</json:string></pii><volume>116</volume><issue>4</issue><pages><first>581</first><last>586</last></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>pediatrics</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>pediatrics</json:string></scienceMetrix><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string><json:string>genetique medicale</json:string></inist></categories><publicationDate>1990</publicationDate><copyrightDate>1990</copyrightDate><doi><json:string>10.1016/S0022-3476(05)81606-3</json:string></doi><id>E6865E9D7A726711F97DACB09E699970FB7F97AA</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/E6865E9D7A726711F97DACB09E699970FB7F97AA/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/E6865E9D7A726711F97DACB09E699970FB7F97AA/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/E6865E9D7A726711F97DACB09E699970FB7F97AA/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>©1990 The C.V. Mosby Company</p></availability><date>1990</date></publicationStmt><notesStmt><note>Supported in part by National Institutes of Health grants GM 15253 and AM 21557.</note><note type="content">Section title: Original article</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito</title><author xml:id="author-0000"><persName><forename type="first">Virginia P.</forename><surname>Sybert</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation><affiliation>Reprint requests: Virginia P. Sybert, MD, Division of Medical Genetics, Children's Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Roberta A.</forename><surname>Pagon</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Michael</forename><surname>Donlan</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Cynthia M.</forename><surname>Bradley</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation></author><idno type="istex">E6865E9D7A726711F97DACB09E699970FB7F97AA</idno><idno type="DOI">10.1016/S0022-3476(05)81606-3</idno><idno type="PII">S0022-3476(05)81606-3</idno><idno type="ArticleID">05816063</idno></analytic><monogr><title level="j">The Journal of Pediatrics</title><title level="j" type="abbrev">YMPD</title><idno type="pISSN">0022-3476</idno><idno type="PII">S0022-3476(05)X8591-2</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1990"></date><biblScope unit="volume">116</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="581">581</biblScope><biblScope unit="page" to="586">586</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1990</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.</p></abstract></profileDesc><revisionDesc><change when="1990">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/E6865E9D7A726711F97DACB09E699970FB7F97AA/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.0.1//EN//XML" URI="art501.dtd" name="istex:docType"></istex:docType><istex:document><article version="5.0" xml:lang="en" docsubtype="fla"><item-info><jid>YMPD</jid><aid>05816063</aid><ce:pii>S0022-3476(05)81606-3</ce:pii><ce:doi>10.1016/S0022-3476(05)81606-3</ce:doi><ce:copyright type="unknown" year="1990">The C.V. Mosby Company</ce:copyright></item-info><head><ce:article-footnote><ce:label>1</ce:label><ce:note-para>Supported in part by National Institutes of Health grants GM 15253 and AM 21557.</ce:note-para></ce:article-footnote><ce:dochead><ce:textfn>Original article</ce:textfn></ce:dochead><ce:title>Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito</ce:title><ce:author-group><ce:author><ce:degrees>MD</ce:degrees><ce:given-name>Virginia P.</ce:given-name><ce:surname>Sybert</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="aff3"><ce:sup>c</ce:sup></ce:cross-ref><ce:cross-ref refid="cor1"><ce:sup>*</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>MD</ce:degrees><ce:given-name>Roberta A.</ce:given-name><ce:surname>Pagon</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="aff3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>MD</ce:degrees><ce:given-name>Michael</ce:given-name><ce:surname>Donlan</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="aff3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:author><ce:degrees>MS</ce:degrees><ce:given-name>Cynthia M.</ce:given-name><ce:surname>Bradley</ce:surname><ce:cross-ref refid="aff1"><ce:sup>a</ce:sup></ce:cross-ref><ce:cross-ref refid="aff2"><ce:sup>b</ce:sup></ce:cross-ref><ce:cross-ref refid="aff3"><ce:sup>c</ce:sup></ce:cross-ref></ce:author><ce:affiliation id="aff1"><ce:label>a</ce:label><ce:textfn>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</ce:textfn></ce:affiliation><ce:affiliation id="aff2"><ce:label>b</ce:label><ce:textfn>University of Washington School of Medicine, Seattle, USA</ce:textfn></ce:affiliation><ce:affiliation id="aff3"><ce:label>c</ce:label><ce:textfn>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</ce:textfn></ce:affiliation><ce:correspondence id="cor1"><ce:label>*</ce:label><ce:text>Reprint requests: Virginia P. Sybert, MD, Division of Medical Genetics, Children's Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.</ce:text></ce:correspondence></ce:author-group><ce:date-received day="3" month="7" year="1989"></ce:date-received><ce:date-accepted day="5" month="10" year="1989"></ce:date-accepted><ce:abstract id="ab1" class="author" xml:lang="en"><ce:abstract-sec><ce:simple-para>Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.</ce:simple-para></ce:abstract-sec></ce:abstract></head><tail><ce:bibliography><ce:section-title>References</ce:section-title><ce:bibliography-sec><ce:bib-reference id="bib1"><ce:label>1.</ce:label><sb:reference><sb:contribution langtype="en"><sb:authors><sb:author><ce:surname>Ito</ce:surname><ce:given-name>M</ce:given-name></sb:author></sb:authors><sb:title><sb:maintitle>Studies on melanin. XI. 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Sybert, MD, Division of Medical Genetics, Children's Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roberta A.</namePart><namePart type="family">Pagon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael</namePart><namePart type="family">Donlan</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cynthia M.</namePart><namePart type="family">Bradley</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Pediatrics, Children's Hospital and Medical Center, Seattle, USA</affiliation><affiliation>University of Washington School of Medicine, Seattle, USA</affiliation><affiliation>Inland Empire Genetic Counseling Services, Spokane, Washington, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1990</dateIssued><copyrightDate encoding="w3cdtf">1990</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.</abstract><note>Supported in part by National Institutes of Health grants GM 15253 and AM 21557.</note><note type="content">Section title: Original article</note><relatedItem type="host"><titleInfo><title>The Journal of Pediatrics</title></titleInfo><titleInfo type="abbreviated"><title>YMPD</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">199004</dateIssued></originInfo><identifier type="ISSN">0022-3476</identifier><identifier type="PII">S0022-3476(05)X8591-2</identifier><part><date>199004</date><detail type="volume"><number>116</number><caption>vol.</caption></detail><detail type="issue"><number>4</number><caption>no.</caption></detail><extent unit="issue pages"><start>497</start><end>670</end></extent><extent unit="pages"><start>581</start><end>586</end></extent></part></relatedItem><identifier type="istex">E6865E9D7A726711F97DACB09E699970FB7F97AA</identifier><identifier type="DOI">10.1016/S0022-3476(05)81606-3</identifier><identifier type="PII">S0022-3476(05)81606-3</identifier><identifier type="ArticleID">05816063</identifier><accessCondition type="use and reproduction" contentType="copyright">©1990 The C.V. 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