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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypical characterization of 13q deletion syndrome: Report of two cases</title><author><name sortKey="Bagherizadeh, Eiman" sort="Bagherizadeh, Eiman" uniqKey="Bagherizadeh E" first="Eiman" last="Bagherizadeh">Eiman Bagherizadeh</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Shafaghati, Yousef" sort="Shafaghati, Yousef" uniqKey="Shafaghati Y" first="Yousef" last="Shafaghati">Yousef Shafaghati</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Hadipour, Fatemeh" sort="Hadipour, Fatemeh" uniqKey="Hadipour F" first="Fatemeh" last="Hadipour">Fatemeh Hadipour</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Behjati, Farkhondeh" sort="Behjati, Farkhondeh" uniqKey="Behjati F" first="Farkhondeh" last="Behjati">Farkhondeh Behjati</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25400354</idno><idno type="pmc">4228577</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228577</idno><idno type="RBID">PMC:4228577</idno><idno type="doi">10.4103/0971-6866.142912</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002237</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002237</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Phenotypical characterization of 13q deletion syndrome: Report of two cases</title><author><name sortKey="Bagherizadeh, Eiman" sort="Bagherizadeh, Eiman" uniqKey="Bagherizadeh E" first="Eiman" last="Bagherizadeh">Eiman Bagherizadeh</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Shafaghati, Yousef" sort="Shafaghati, Yousef" uniqKey="Shafaghati Y" first="Yousef" last="Shafaghati">Yousef Shafaghati</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Hadipour, Fatemeh" sort="Hadipour, Fatemeh" uniqKey="Hadipour F" first="Fatemeh" last="Hadipour">Fatemeh Hadipour</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Behjati, Farkhondeh" sort="Behjati, Farkhondeh" uniqKey="Behjati F" first="Farkhondeh" last="Behjati">Farkhondeh Behjati</name><affiliation><nlm:aff id="aff1">Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran</nlm:aff></affiliation></author></analytic><series><title level="j">Indian Journal of Human Genetics</title><idno type="ISSN">0971-6866</idno><idno type="eISSN">1998-362X</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Brown, S" uniqKey="Brown S">S Brown</name></author><author><name sortKey="Gersen, S" uniqKey="Gersen S">S Gersen</name></author><author><name sortKey="Anyane Yeboa, K" uniqKey="Anyane Yeboa K">K Anyane-Yeboa</name></author><author><name sortKey="Warburton, D" uniqKey="Warburton D">D Warburton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brown, S" uniqKey="Brown S">S Brown</name></author><author><name sortKey="Russo, J" uniqKey="Russo J">J Russo</name></author><author><name sortKey="Chitayat, D" uniqKey="Chitayat D">D Chitayat</name></author><author><name sortKey="Warburton, D" uniqKey="Warburton D">D Warburton</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lele, Kp" uniqKey="Lele K">KP Lele</name></author><author><name sortKey="Penrose, Ls" uniqKey="Penrose L">LS Penrose</name></author><author><name sortKey="Stallard, Hb" uniqKey="Stallard H">HB Stallard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sparkes, Rs" uniqKey="Sparkes R">RS Sparkes</name></author><author><name sortKey="Sparkes, Mc" uniqKey="Sparkes M">MC Sparkes</name></author><author><name sortKey="Wilson, Mg" uniqKey="Wilson M">MG Wilson</name></author><author><name sortKey="Towner, Jw" uniqKey="Towner J">JW Towner</name></author><author><name sortKey="Benedict, W" uniqKey="Benedict W">W Benedict</name></author><author><name sortKey="Murphree, Al" uniqKey="Murphree A">AL Murphree</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fryns, Jp" uniqKey="Fryns J">JP Fryns</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jones, Kl" uniqKey="Jones K">KL Jones</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Indian J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Indian J Hum Genet</journal-id><journal-id journal-id-type="publisher-id">IJHG</journal-id><journal-title-group><journal-title>Indian Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0971-6866</issn><issn pub-type="epub">1998-362X</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25400354</article-id><article-id pub-id-type="pmc">4228577</article-id><article-id pub-id-type="publisher-id">IJHG-20-203</article-id><article-id pub-id-type="doi">10.4103/0971-6866.142912</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Phenotypical characterization of 13q deletion syndrome: Report of two cases</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Bagherizadeh</surname><given-names>Eiman</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Shafaghati</surname><given-names>Yousef</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Hadipour</surname><given-names>Fatemeh</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Behjati</surname><given-names>Farkhondeh</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="corresp" rid="cor1"></xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran</aff><aff id="aff2"><label>2</label>Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran</aff><author-notes><corresp id="cor1"><bold>Address for correspondence:</bold> Dr. Farkhondeh Behjati, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. E-mail: <email xlink:href="f_behjati@uswr.ac.ir">f_behjati@uswr.ac.ir</email></corresp></author-notes><pub-date pub-type="ppub"><season>Apr-Jun</season><year>2014</year></pub-date><volume>20</volume><issue>2</issue><fpage>203</fpage><lpage>205</lpage><permissions><copyright-statement>Copyright: © Indian Journal of Human Genetics</copyright-statement><copyright-year>2014</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.</p></abstract><kwd-group><kwd>13q deletion syndrome</kwd><kwd>mental retardation</kwd><kwd>multiple anomalies</kwd></kwd-group></article-meta></front><body><sec sec-type="intro" id="sec1-1"><title>Introduction</title><p>Phenotypical features of chromosome 13q syndrome have been described over the past 30 years. The patients have various clinical features depending on the size and deleted region on chromosome 13. This region was investigated as a critical region for these patients.[<xref rid="ref1" ref-type="bibr">1</xref><xref rid="ref2" ref-type="bibr">2</xref>] The 13q syndrome is characterized into 3 groups: Group 1 in which proximal region (q12.2-q31) is involved in deletion and patients tend to appear with minor abnormalities, mild to moderate mental retardation and susceptible to retinoblastoma.[<xref rid="ref3" ref-type="bibr">3</xref><xref rid="ref4" ref-type="bibr">4</xref>] Group 2 included those with proximal to q32 (q12.2-q32), these patients appear with major malfunctions, moderate to severe mental retardation and microcephaly[<xref rid="ref5" ref-type="bibr">5</xref>] and growth retardation. Group 3 comprised those with q33-q34; these patients have severe mental retardation without major malfunctions and growth retardation.[<xref rid="ref1" ref-type="bibr">1</xref><xref rid="ref2" ref-type="bibr">2</xref>]</p></sec><sec id="sec1-2"><title>Case Reports</title><sec id="sec2-1"><title></title><sec id="sec3-1"><title>Case 1</title><p>A 5-year-old boy was referred for genetic counseling with different phenotypical features [<xref ref-type="table" rid="T1">Table 1</xref>]. The parents were unrelated with history of one abortion in the previous pregnancy. The patient was the product of a full-term pregnancy and normal vaginal delivery. Birth weight was 2.4 kg. He had seizure beginning from 2<sup>nd</sup> months; brain computed tomography (CT) scan displayed agenesis of vermis of the cerebellum [<xref ref-type="fig" rid="F1">Figure 1</xref>], the clinical features in this case were:</p><table-wrap id="T1" position="float"><label>Table 1</label><caption><p>Clinical features of the patients</p></caption><graphic xlink:href="IJHG-20-203-g001"></graphic></table-wrap><fig id="F1" position="float"><label>Figure 1</label><caption><p>(a) Note to the ptosis, down slanted palpebral fissures, strabismus, and high nasal bridge. (b) Over riding of fourth toes. (c) Hypospadias. (d) Agenesis of the vermis cerebellum</p></caption><graphic xlink:href="IJHG-20-203-g002"></graphic></fig><p>Cleft palate, microcephaly (head circumference of 45 cm [<-2 SD (2%)][<xref rid="ref6" ref-type="bibr">6</xref>]), moderate to severe mental retardation, speech difficulty, asymmetric in left skulp, ptosis, club feet, down slanted palperbal fissures, hypospadias, neurodevelopmental delay, syndactyly in both hands fingers, short metacarp, overriding of the fourth toes, strabismus, left blepharophimosis in the left side, high nasal bridge, thin lips, micrognathia, no ovala, dental decay, small ears, and hypoplastic thumb.</p></sec><sec id="sec3-2"><title>Case 2</title><p>A 12-year-old girl was referred with dysmorphic features, mild mental retardation, and neurodevelopmental delay [<xref ref-type="table" rid="T1">Table 1</xref>]. The girl was the product of a normal pregnancy and birth weight and height were 3.5 kg and 49 cm, respectively. Head circumference was 53 cm normal for the age of 12 years, and she is studying in the elementary school. Parents were first cousins once removed with the history of one abortion in the mother. There are two other healthy male and female siblings in the family. She was evaluated by nerve conduction velocity test and exhibited some sort of neuropathy. Clinical characterizations included [<xref ref-type="fig" rid="F2">Figure 2</xref>]: Generalized weakness of muscle bulk (hypotonia), scapula alata, upper limb girdle weakness, high nasal bridge, wide mandibular angle, high arched palate, thin and long narrow face, down slanted palpebral fissures, hypoplasia of alae nasi, low hairline, webbed neck, overriding toes, and sandal gap. There were small nevi on her posterior trunk.</p><fig id="F2" position="float"><label>Figure 2</label><caption><p>(a) Note to the high nasal bridge, wide mandibular angle, thin and long narrow face, down slanted palpebral fissures, web neck. (b) Scapula alata</p></caption><graphic xlink:href="IJHG-20-203-g003"></graphic></fig></sec></sec></sec><sec sec-type="materials|methods" id="sec1-3"><title>Materials and Methods</title><p>Standard high-resolution GTG banding was carried out in order to investigate the patients’ chromosomes. Metaphase chromosomes prepared on slides using pancreatin enzyme for banding preparation.</p></sec><sec id="sec1-4"><title>Results and Discussion</title><p>We present here two cases with 13q deletion syndrome with different phenotypical features. Case 1, a boy with deletion of q33-q34 [<xref ref-type="fig" rid="F3">Figure 3</xref>] who had microcephaly, moderate to severe mental retardation, neurodevelopmental delay, and primary diagnosis was Moebius syndrome. There was agenesis of vermis cerebellum after CT scan evaluation. Case 2 was a girl with deletion of q12.3-q14.3 [<xref ref-type="fig" rid="F3">Figure 3</xref>], with dismorphic features, neurodevelopmental delay and neuropathy, but not microcephaly and seizure; this case did not have any retinoblastoma.</p><fig id="F3" position="float"><label>Figure 3</label><caption><p>(a) The abnormal chromosome displays deleted region from q33 to q34 which, belongs to Group 3. (b) The abnormal chromosome, with deleted region of q12.3-q14.3 belongs to Group 1</p></caption><graphic xlink:href="IJHG-20-203-g004"></graphic></fig><p>Case 1 related to the Group 3 with more severe phenotypical and neurological features and Case 2 related to the Group 1 with less clinical and neurological characterizations. Overall Case 1 exhibited more dysmorphic characterizations and more severe mental retardation than Case 2. Our findings are consistent with previous cases reported. It is recommended that children with seizure, neuropathy, mental retardation, and dismorphic features can be the candidate for chromosomal investigation as well as other tests required for evaluation.</p></sec></body><back><fn-group><fn fn-type="supported-by"><p><bold>Source of Support:</bold> Nil</p></fn><fn fn-type="conflict"><p><bold>Conflict of Interest:</bold> None declared.</p></fn></fn-group><ref-list><ref id="ref1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Brown</surname><given-names>S</given-names></name><name><surname>Gersen</surname><given-names>S</given-names></name><name><surname>Anyane-Yeboa</surname><given-names>K</given-names></name><name><surname>Warburton</surname><given-names>D</given-names></name></person-group><article-title>Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature</article-title><source>Am J Med Genet</source><year>1993</year><volume>45</volume><fpage>52</fpage><lpage>9</lpage><pub-id pub-id-type="pmid">8418661</pub-id></element-citation></ref><ref id="ref2"><label>2</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Brown</surname><given-names>S</given-names></name><name><surname>Russo</surname><given-names>J</given-names></name><name><surname>Chitayat</surname><given-names>D</given-names></name><name><surname>Warburton</surname><given-names>D</given-names></name></person-group><article-title>The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32</article-title><source>Am J Hum Genet</source><year>1995</year><volume>57</volume><fpage>859</fpage><lpage>66</lpage><pub-id pub-id-type="pmid">7573047</pub-id></element-citation></ref><ref id="ref3"><label>3</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Lele</surname><given-names>KP</given-names></name><name><surname>Penrose</surname><given-names>LS</given-names></name><name><surname>Stallard</surname><given-names>HB</given-names></name></person-group><article-title>Chromosome deletion in a case of retinoblastoma</article-title><source>Ann Hum Genet</source><year>1963</year><volume>27</volume><fpage>171</fpage><lpage>4</lpage><pub-id pub-id-type="pmid">14081487</pub-id></element-citation></ref><ref id="ref4"><label>4</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Sparkes</surname><given-names>RS</given-names></name><name><surname>Sparkes</surname><given-names>MC</given-names></name><name><surname>Wilson</surname><given-names>MG</given-names></name><name><surname>Towner</surname><given-names>JW</given-names></name><name><surname>Benedict</surname><given-names>W</given-names></name><name><surname>Murphree</surname><given-names>AL</given-names></name><etal></etal></person-group><article-title>Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14</article-title><source>Science</source><year>1980</year><volume>208</volume><fpage>1042</fpage><lpage>4</lpage><pub-id pub-id-type="pmid">7375916</pub-id></element-citation></ref><ref id="ref5"><label>5</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Fryns</surname><given-names>JP</given-names></name></person-group><article-title>Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13</article-title><source>Am J Med Genet</source><year>1995</year><volume>57</volume><fpage>504</fpage><pub-id pub-id-type="pmid">7545871</pub-id></element-citation></ref><ref id="ref6"><label>6</label><element-citation publication-type="book"><person-group person-group-type="author"><name><surname>Jones</surname><given-names>KL</given-names></name></person-group><article-title>Smith's Recognizable Patterns of Human Malformation</article-title><year>2006</year><edition>6th ed</edition><publisher-loc>Philadelphia</publisher-loc><publisher-name>Elsevier-Saunders</publisher-name><fpage>849</fpage></element-citation></ref></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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