De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.
Identifieur interne : 000099 ( Main/Corpus ); précédent : 000098; suivant : 000100De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.
Auteurs : Abul Kalam Azad ; Lindsay Yanakakis ; Samantha Issleb ; Jessica Turina ; Kelli Drabik ; Christina Bonner ; Eve Simi ; Andrew Wagner ; Morry Fiddler ; Rizwan NaeemSource :
- Molecular cytogenetics [ 1755-8166 ] ; 2020.
Abstract
Background
Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit.
Case presentation
We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). The medical and family history was otherwise uneventful. After appropriate genetic counseling, amniocentesis was performed to evaluate suspected chromosomal anomalies.
Conclusions
Interphase fluorescent in situ hybridization revealed loss of one chr 21 signal that was further delineated by chromosomal microarray analysis on uncultured amniocytes as a terminal 10 Mb deletion on chr 21q. Karyotype and microarrays on cultured amniocytes showed two cell lines for a mosaic 21q terminal deletion and monosomy 21. The combined molecular cytogenetics results reported following the ISCN 2016 guideline as mos 46,XX,del(21)(q22)dn[20]/45,XX,-21dn[10].nuc ish(D21S342/D21S341/D21S259x1)[100].arr[GRCh37] 21q11.2q22.12(15412676_36272993)x1~2,21q22.12q22.3(36431283_47612400)x1. Parental chromosomal analysis revealed normal karyotypes. Thus, this was a
DOI: 10.1186/s13039-020-00513-2
PubMed: 32944080
PubMed Central: PMC7488852
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USA.</nlm:affiliation></affiliation></author><author><name sortKey="Turina, Jessica" sort="Turina, Jessica" uniqKey="Turina J" first="Jessica" last="Turina">Jessica Turina</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Drabik, Kelli" sort="Drabik, Kelli" uniqKey="Drabik K" first="Kelli" last="Drabik">Kelli Drabik</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Bonner, Christina" sort="Bonner, Christina" uniqKey="Bonner C" first="Christina" last="Bonner">Christina Bonner</name><affiliation><nlm:affiliation>Chicago Women's Health Group, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Simi, Eve" sort="Simi, Eve" uniqKey="Simi E" first="Eve" last="Simi">Eve Simi</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Wagner, Andrew" sort="Wagner, Andrew" uniqKey="Wagner A" first="Andrew" last="Wagner">Andrew Wagner</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Fiddler, Morry" sort="Fiddler, Morry" uniqKey="Fiddler M" first="Morry" last="Fiddler">Morry Fiddler</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Naeem, Rizwan" sort="Naeem, Rizwan" uniqKey="Naeem R" first="Rizwan" last="Naeem">Rizwan Naeem</name><affiliation><nlm:affiliation>Department of Pathology/Molecular Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar St., Bronx, NY 10461 USA.</nlm:affiliation></affiliation><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2020">2020</date><idno type="RBID">pubmed:32944080</idno><idno type="pmid">32944080</idno><idno type="doi">10.1186/s13039-020-00513-2</idno><idno type="pmc">PMC7488852</idno><idno type="wicri:Area/Main/Corpus">000099</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000099</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en"><i>De novo</i> mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.</title><author><name sortKey="Azad, Abul Kalam" sort="Azad, Abul Kalam" uniqKey="Azad A" first="Abul Kalam" last="Azad">Abul Kalam Azad</name><affiliation><nlm:affiliation>Department of Pathology/Molecular Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar St., Bronx, NY 10461 USA.</nlm:affiliation></affiliation></author><author><name sortKey="Yanakakis, Lindsay" sort="Yanakakis, Lindsay" uniqKey="Yanakakis L" first="Lindsay" last="Yanakakis">Lindsay Yanakakis</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Issleb, Samantha" sort="Issleb, Samantha" uniqKey="Issleb S" first="Samantha" last="Issleb">Samantha Issleb</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Turina, Jessica" sort="Turina, Jessica" uniqKey="Turina J" first="Jessica" last="Turina">Jessica Turina</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Drabik, Kelli" sort="Drabik, Kelli" uniqKey="Drabik K" first="Kelli" last="Drabik">Kelli Drabik</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Bonner, Christina" sort="Bonner, Christina" uniqKey="Bonner C" first="Christina" last="Bonner">Christina Bonner</name><affiliation><nlm:affiliation>Chicago Women's Health Group, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Simi, Eve" sort="Simi, Eve" uniqKey="Simi E" first="Eve" last="Simi">Eve Simi</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Wagner, Andrew" sort="Wagner, Andrew" uniqKey="Wagner A" first="Andrew" last="Wagner">Andrew Wagner</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Fiddler, Morry" sort="Fiddler, Morry" uniqKey="Fiddler M" first="Morry" last="Fiddler">Morry Fiddler</name><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author><author><name sortKey="Naeem, Rizwan" sort="Naeem, Rizwan" uniqKey="Naeem R" first="Rizwan" last="Naeem">Rizwan Naeem</name><affiliation><nlm:affiliation>Department of Pathology/Molecular Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar St., Bronx, NY 10461 USA.</nlm:affiliation></affiliation><affiliation><nlm:affiliation>Insight Medical Genetics, Chicago, IL USA.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Molecular cytogenetics</title><idno type="ISSN">1755-8166</idno><imprint><date when="2020" type="published">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><b>Background</b></p><p>Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit.</p></div><div type="abstract" xml:lang="en"><p><b>Case presentation</b></p><p>We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). The medical and family history was otherwise uneventful. After appropriate genetic counseling, amniocentesis was performed to evaluate suspected chromosomal anomalies.</p></div><div type="abstract" xml:lang="en"><p><b>Conclusions</b></p><p>Interphase fluorescent in situ hybridization revealed loss of one chr 21 signal that was further delineated by chromosomal microarray analysis on uncultured amniocytes as a terminal 10 Mb deletion on chr 21q. Karyotype and microarrays on cultured amniocytes showed two cell lines for a mosaic 21q terminal deletion and monosomy 21. The combined molecular cytogenetics results reported following the ISCN 2016 guideline as mos 46,XX,del(21)(q22)dn[20]/45,XX,-21dn[10].nuc ish(D21S342/D21S341/D21S259x1)[100].arr[GRCh37] 21q11.2q22.12(15412676_36272993)x1~2,21q22.12q22.3(36431283_47612400)x1. Parental chromosomal analysis revealed normal karyotypes. Thus, this was a </p></div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">32944080</PMID><DateRevised><Year>2020</Year><Month>09</Month><Day>28</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Print">1755-8166</ISSN><JournalIssue CitedMedium="Print"><Volume>13</Volume><PubDate><Year>2020</Year></PubDate></JournalIssue><Title>Molecular cytogenetics</Title><ISOAbbreviation>Mol Cytogenet</ISOAbbreviation></Journal><ArticleTitle><i>De novo</i> mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.</ArticleTitle><Pagination><MedlinePgn>45</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13039-020-00513-2</ELocationID><Abstract><AbstractText Label="Background" NlmCategory="UNASSIGNED">Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit.</AbstractText><AbstractText Label="Case presentation" NlmCategory="UNASSIGNED">We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). The medical and family history was otherwise uneventful. After appropriate genetic counseling, amniocentesis was performed to evaluate suspected chromosomal anomalies.</AbstractText><AbstractText Label="Conclusions" NlmCategory="UNASSIGNED">Interphase fluorescent in situ hybridization revealed loss of one chr 21 signal that was further delineated by chromosomal microarray analysis on uncultured amniocytes as a terminal 10 Mb deletion on chr 21q. Karyotype and microarrays on cultured amniocytes showed two cell lines for a mosaic 21q terminal deletion and monosomy 21. The combined molecular cytogenetics results reported following the ISCN 2016 guideline as mos 46,XX,del(21)(q22)dn[20]/45,XX,-21dn[10].nuc ish(D21S342/D21S341/D21S259x1)[100].arr[GRCh37] 21q11.2q22.12(15412676_36272993)x1~2,21q22.12q22.3(36431283_47612400)x1. Parental chromosomal analysis revealed normal karyotypes. Thus, this was a <i>de novo</i> mosaic full and partial monosomy of chr 21 in a case with SVC duplication. Despite the association of congenital heart disease with monsomy 21 we could not find any published literature or online databases for this cytogenetic abnormality. The patient terminated the pregnancy following the abnormal molecular cytogenetic results due to the possible challenges the baby would face if carried to term.</AbstractText><CopyrightInformation>© The Author(s) 2020.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Azad</LastName><ForeName>Abul Kalam</ForeName><Initials>AK</Initials><Identifier Source="ORCID">0000-0002-9236-9598</Identifier><AffiliationInfo><Affiliation>Department of Pathology/Molecular Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar St., Bronx, NY 10461 USA.</Affiliation><Identifier Source="GRID">grid.251993.5</Identifier><Identifier Source="ISNI">0000000121791997</Identifier></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Yanakakis</LastName><ForeName>Lindsay</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Issleb</LastName><ForeName>Samantha</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Turina</LastName><ForeName>Jessica</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Drabik</LastName><ForeName>Kelli</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bonner</LastName><ForeName>Christina</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Chicago Women's Health Group, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Simi</LastName><ForeName>Eve</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wagner</LastName><ForeName>Andrew</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fiddler</LastName><ForeName>Morry</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Naeem</LastName><ForeName>Rizwan</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Pathology/Molecular Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, 1635 Poplar St., Bronx, NY 10461 USA.</Affiliation><Identifier Source="GRID">grid.251993.5</Identifier><Identifier Source="ISNI">0000000121791997</Identifier></AffiliationInfo><AffiliationInfo><Affiliation>Insight Medical Genetics, Chicago, IL USA.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>09</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Mol Cytogenet</MedlineTA><NlmUniqueID>101317942</NlmUniqueID><ISSNLinking>1755-8166</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Chromosome 21</Keyword><Keyword MajorTopicYN="N">Mosaicism</Keyword><Keyword MajorTopicYN="N">Partial monosomy</Keyword><Keyword MajorTopicYN="N">Superior vena cava duplication</Keyword></KeywordList><CoiStatement>Competing interestsThe authors declare no conflict of interest.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2020</Year><Month>06</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2020</Year><Month>08</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>9</Month><Day>18</Day><Hour>5</Hour><Minute>49</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>9</Month><Day>19</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>9</Month><Day>19</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">32944080</ArticleId><ArticleId IdType="doi">10.1186/s13039-020-00513-2</ArticleId><ArticleId IdType="pii">513</ArticleId><ArticleId IdType="pmc">PMC7488852</ArticleId></ArticleIdList><ReferenceList><Reference><Citation>Am J Hum Genet. 2009 Apr;84(4):524-33</Citation><ArticleIdList><ArticleId IdType="pubmed">19344873</ArticleId></ArticleIdList></Reference><Reference><Citation>Eur J Hum Genet. 2009 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