Loading…
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)
Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion...
Saved in:
| Published in: | Prenatal diagnosis 2002-08, Vol.22 (8), p.652-655 |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343 |
| container_end_page | 655 |
| container_issue | 8 |
| container_start_page | 652 |
| container_title | Prenatal diagnosis |
| container_volume | 22 |
| creator | Coulomb L'Herminé, A. Aboura, A. Simon-Bouy, B. Robin, F. Audibert, F. Strouk, N. Capron, F. Frydman, R. Tachdjian, G. |
| description | Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.353 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_72057026</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72057026</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343</originalsourceid><addsrcrecordid>eNp10MFu2zAMBmBhaLFm3fYIgy8dloNTUbQs-1hkTVs0aHco0N0ERaIRbXbsSDa6vP1cJGhOPZEEPpDgz9hX4DPgXFx2boYSP7AJ8FKlXAg8YRMOY4-FhDP2KcY_oytEqT6yMxACuFQwYdcLakxNSRdpcO2aQmO6dWid731sEr9JTFJRP8TkxffrcXBUU-_bTVL-2AoxE1uEGUw_s9PK1JG-HOo5e1pcP81v0-Xjzd38aplaVApTKlFKJ0C6kogqshYKKwunIKPCVjkWlufVqszQ5mgNB1e4nHLI-Mo6zPCcfd-v7UK7HSj2uvHRUl2bDbVD1EqMT3GRH6ENbYyBKt0F35iw08D1a166c3rMa4TfDhuHVUPuyA4BjeDiAEy0pq6C2Vgfjw4LyJQsRzfduxdf0-6dc_rXz_3RdG997OnfmzXhr84VKqmfH27082--WN4_oL7F_6D3jFA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>72057026</pqid></control><display><type>article</type><title>Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)</title><source>Wiley-Blackwell Read & Publish Collection</source><creator>Coulomb L'Herminé, A. ; Aboura, A. ; Simon-Bouy, B. ; Robin, F. ; Audibert, F. ; Strouk, N. ; Capron, F. ; Frydman, R. ; Tachdjian, G.</creator><creatorcontrib>Coulomb L'Herminé, A. ; Aboura, A. ; Simon-Bouy, B. ; Robin, F. ; Audibert, F. ; Strouk, N. ; Capron, F. ; Frydman, R. ; Tachdjian, G.</creatorcontrib><description>Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.353</identifier><identifier>PMID: 12210571</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Adult ; Biological and medical sciences ; CGH ; chromosome 9 ; Chromosome aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 9 ; Congenital Abnormalities - genetics ; deletion ; Disorders of Sex Development - diagnosis ; Disorders of Sex Development - genetics ; Female ; female pseudohermaphroditism ; Fetal Growth Retardation - genetics ; Gene Deletion ; Gestational Age ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical genetics ; Medical sciences ; Nucleic Acid Hybridization ; Ovary - enzymology ; Pregnancy ; prenatal diagnosis</subject><ispartof>Prenatal diagnosis, 2002-08, Vol.22 (8), p.652-655</ispartof><rights>Copyright © 2002 John Wiley & Sons, Ltd.</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2002 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343</citedby><cites>FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,783,787,27936,27937</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13814759$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12210571$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Coulomb L'Herminé, A.</creatorcontrib><creatorcontrib>Aboura, A.</creatorcontrib><creatorcontrib>Simon-Bouy, B.</creatorcontrib><creatorcontrib>Robin, F.</creatorcontrib><creatorcontrib>Audibert, F.</creatorcontrib><creatorcontrib>Strouk, N.</creatorcontrib><creatorcontrib>Capron, F.</creatorcontrib><creatorcontrib>Frydman, R.</creatorcontrib><creatorcontrib>Tachdjian, G.</creatorcontrib><title>Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>CGH</subject><subject>chromosome 9</subject><subject>Chromosome aberrations</subject><subject>Chromosome Banding</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Congenital Abnormalities - genetics</subject><subject>deletion</subject><subject>Disorders of Sex Development - diagnosis</subject><subject>Disorders of Sex Development - genetics</subject><subject>Female</subject><subject>female pseudohermaphroditism</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Gene Deletion</subject><subject>Gestational Age</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Nucleic Acid Hybridization</subject><subject>Ovary - enzymology</subject><subject>Pregnancy</subject><subject>prenatal diagnosis</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><recordid>eNp10MFu2zAMBmBhaLFm3fYIgy8dloNTUbQs-1hkTVs0aHco0N0ERaIRbXbsSDa6vP1cJGhOPZEEPpDgz9hX4DPgXFx2boYSP7AJ8FKlXAg8YRMOY4-FhDP2KcY_oytEqT6yMxACuFQwYdcLakxNSRdpcO2aQmO6dWid731sEr9JTFJRP8TkxffrcXBUU-_bTVL-2AoxE1uEGUw_s9PK1JG-HOo5e1pcP81v0-Xjzd38aplaVApTKlFKJ0C6kogqshYKKwunIKPCVjkWlufVqszQ5mgNB1e4nHLI-Mo6zPCcfd-v7UK7HSj2uvHRUl2bDbVD1EqMT3GRH6ENbYyBKt0F35iw08D1a166c3rMa4TfDhuHVUPuyA4BjeDiAEy0pq6C2Vgfjw4LyJQsRzfduxdf0-6dc_rXz_3RdG997OnfmzXhr84VKqmfH27082--WN4_oL7F_6D3jFA</recordid><startdate>200208</startdate><enddate>200208</enddate><creator>Coulomb L'Herminé, A.</creator><creator>Aboura, A.</creator><creator>Simon-Bouy, B.</creator><creator>Robin, F.</creator><creator>Audibert, F.</creator><creator>Strouk, N.</creator><creator>Capron, F.</creator><creator>Frydman, R.</creator><creator>Tachdjian, G.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200208</creationdate><title>Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)</title><author>Coulomb L'Herminé, A. ; Aboura, A. ; Simon-Bouy, B. ; Robin, F. ; Audibert, F. ; Strouk, N. ; Capron, F. ; Frydman, R. ; Tachdjian, G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>CGH</topic><topic>chromosome 9</topic><topic>Chromosome aberrations</topic><topic>Chromosome Banding</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Congenital Abnormalities - genetics</topic><topic>deletion</topic><topic>Disorders of Sex Development - diagnosis</topic><topic>Disorders of Sex Development - genetics</topic><topic>Female</topic><topic>female pseudohermaphroditism</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Gene Deletion</topic><topic>Gestational Age</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Nucleic Acid Hybridization</topic><topic>Ovary - enzymology</topic><topic>Pregnancy</topic><topic>prenatal diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Coulomb L'Herminé, A.</creatorcontrib><creatorcontrib>Aboura, A.</creatorcontrib><creatorcontrib>Simon-Bouy, B.</creatorcontrib><creatorcontrib>Robin, F.</creatorcontrib><creatorcontrib>Audibert, F.</creatorcontrib><creatorcontrib>Strouk, N.</creatorcontrib><creatorcontrib>Capron, F.</creatorcontrib><creatorcontrib>Frydman, R.</creatorcontrib><creatorcontrib>Tachdjian, G.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Coulomb L'Herminé, A.</au><au>Aboura, A.</au><au>Simon-Bouy, B.</au><au>Robin, F.</au><au>Audibert, F.</au><au>Strouk, N.</au><au>Capron, F.</au><au>Frydman, R.</au><au>Tachdjian, G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2002-08</date><risdate>2002</risdate><volume>22</volume><issue>8</issue><spage>652</spage><epage>655</epage><pages>652-655</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>12210571</pmid><doi>10.1002/pd.353</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 2002-08, Vol.22 (8), p.652-655 |
| issn | 0197-3851 1097-0223 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_72057026 |
| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult Biological and medical sciences CGH chromosome 9 Chromosome aberrations Chromosome Banding Chromosomes, Human, Pair 9 Congenital Abnormalities - genetics deletion Disorders of Sex Development - diagnosis Disorders of Sex Development - genetics Female female pseudohermaphroditism Fetal Growth Retardation - genetics Gene Deletion Gestational Age Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Karyotyping Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical genetics Medical sciences Nucleic Acid Hybridization Ovary - enzymology Pregnancy prenatal diagnosis |
| title | Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1) |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-11-13T07%3A16%3A51IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Female%20pseudohermaphroditism%20in%20a%20fetus%20with%20a%20deletion%209(q22.2q31.1)&rft.jtitle=Prenatal%20diagnosis&rft.au=Coulomb%20L'Hermin%C3%A9,%20A.&rft.date=2002-08&rft.volume=22&rft.issue=8&rft.spage=652&rft.epage=655&rft.pages=652-655&rft.issn=0197-3851&rft.eissn=1097-0223&rft.coden=PRDIDM&rft_id=info:doi/10.1002/pd.353&rft_dat=%3Cproquest_cross%3E72057026%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c3773-e9355d215d9eeefecc18c58d714e8cf638c06fb943c63ca01d8d6e6140bcd343%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=72057026&rft_id=info:pmid/12210571&rfr_iscdi=true |