XX‐agonadism in a fetus with multiple congenital anomalies
We report on an 18‐week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo‐encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single umbilical art...
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| Veröffentlicht in: | American journal of medical genetics 2004-04, Vol.126A (1), p.104-105 |
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| container_end_page | 105 |
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| container_title | American journal of medical genetics |
| container_volume | 126A |
| creator | Woo, Hennie H.N. Lo, Ivan F.M. Tse, H.Y. Lam, Stephen T.S. Tang, C.H. |
| description | We report on an 18‐week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo‐encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single umbilical artery. This case is similar to the one previously described by Kennerknecht et al. in 1997 and may represent a unique syndrome. © 2003 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.20554 |
| format | Article |
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Genetic counseling</subject><subject>Gonadal Dysgenesis, 46,XX - genetics</subject><subject>Gonadal Dysgenesis, 46,XX - pathology</subject><subject>Humans</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>multiple congenital anomalies</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Sex Characteristics</subject><subject>Syndrome</subject><issn>1552-4825</issn><issn>0148-7299</issn><issn>1552-4833</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0L1OwzAUBWALgWgpbMwoC0yk-DdxJJaqggICsYDUzXIcu7hykhInqrrxCDwjT0JKImCC6d7h0znSAeAYwTGCEF_IZb4YyzGGjNEdMESM4ZByQna_f8wG4MD7JYQEsjjaBwPEIEkSjobgcj7_eHuXi7KQmfV5YItABkbXjQ_Wtn4J8sbVduV0oMpioQtbSxfIosyls9ofgj0jnddH_R2B5-urp-lNeP84u51O7kNFEkxDGjGioKGUJ5xixgmGESYkgwYlGTImxjBOdZwahHmiCVQcoZiwiBKMGWMpGYGzLndVla-N9rXIrVfaOVnosvEiRjFDvG35D2LIeVuGW3jeQVWV3lfaiFVlc1ltBIJiO6vYziqk-Jq15Sd9bpPmOvvB_Y4tOO2B9Eo6U8lCWf_LRRBRvg0inVtbpzd_lorJ3cOsq_8EvbeOmQ</recordid><startdate>20040401</startdate><enddate>20040401</enddate><creator>Woo, Hennie H.N.</creator><creator>Lo, Ivan F.M.</creator><creator>Tse, H.Y.</creator><creator>Lam, Stephen T.S.</creator><creator>Tang, C.H.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20040401</creationdate><title>XX‐agonadism in a fetus with multiple congenital anomalies</title><author>Woo, Hennie H.N. ; Lo, Ivan F.M. ; Tse, H.Y. ; Lam, Stephen T.S. ; Tang, C.H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3924-4653c0f4489842583206233d0f19d1ff7207be7bf1289e30c81173564322555b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Adult</topic><topic>agonadism</topic><topic>Biological and medical sciences</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Chromosomes, Human, X - pathology</topic><topic>Female</topic><topic>General aspects. Genetic counseling</topic><topic>Gonadal Dysgenesis, 46,XX - genetics</topic><topic>Gonadal Dysgenesis, 46,XX - pathology</topic><topic>Humans</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>multiple congenital anomalies</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Sex Characteristics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Woo, Hennie H.N.</creatorcontrib><creatorcontrib>Lo, Ivan F.M.</creatorcontrib><creatorcontrib>Tse, H.Y.</creatorcontrib><creatorcontrib>Lam, Stephen T.S.</creatorcontrib><creatorcontrib>Tang, C.H.</creatorcontrib><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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Woo, Hennie H.N.</au><au>Lo, Ivan F.M.</au><au>Tse, H.Y.</au><au>Lam, Stephen T.S.</au><au>Tang, C.H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>XX‐agonadism in a fetus with multiple congenital anomalies</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am J Med Genet A</addtitle><date>2004-04-01</date><risdate>2004</risdate><volume>126A</volume><issue>1</issue><spage>104</spage><epage>105</epage><pages>104-105</pages><issn>1552-4825</issn><issn>0148-7299</issn><eissn>1552-4833</eissn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>We report on an 18‐week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo‐encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single umbilical artery. 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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Adult agonadism Biological and medical sciences Chromosomes, Human, X - genetics Chromosomes, Human, X - pathology Female General aspects. Genetic counseling Gonadal Dysgenesis, 46,XX - genetics Gonadal Dysgenesis, 46,XX - pathology Humans Medical genetics Medical sciences multiple congenital anomalies Pregnancy Prenatal Diagnosis Sex Characteristics Syndrome |
| title | XX‐agonadism in a fetus with multiple congenital anomalies |
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