Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report
X chromosome deletion is an infrequent finding in prenatal diagnosis and presents a difficult counseling challenge when it occurs. We present a case of a familial X chromosome long arm deletion discovered in a routine amniocentesis and subsequently in the mother. The pregnancy resulted in the birth...
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| Veröffentlicht in: | Prenatal diagnosis 2001-01, Vol.21 (1), p.27-30 |
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| container_title | Prenatal diagnosis |
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| creator | Brown, Lucia Y. Alonso, M. Lita Yu, Judy Warburton, Dorothy Brown, Stephen |
| description | X chromosome deletion is an infrequent finding in prenatal diagnosis and presents a difficult counseling challenge when it occurs. We present a case of a familial X chromosome long arm deletion discovered in a routine amniocentesis and subsequently in the mother. The pregnancy resulted in the birth of a normal girl, and X chromosome inactivation skewing was demonstrated in both mother and daughter. Xq deletion phenotypes and counseling issues are reviewed. Copyright © 2001 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/1097-0223(200101)21:1<27::AID-PD971>3.0.CO;2-R |
| format | Article |
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Lita</creatorcontrib><creatorcontrib>Yu, Judy</creatorcontrib><creatorcontrib>Warburton, Dorothy</creatorcontrib><creatorcontrib>Brown, Stephen</creatorcontrib><title>Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>X chromosome deletion is an infrequent finding in prenatal diagnosis and presents a difficult counseling challenge when it occurs. We present a case of a familial X chromosome long arm deletion discovered in a routine amniocentesis and subsequently in the mother. The pregnancy resulted in the birth of a normal girl, and X chromosome inactivation skewing was demonstrated in both mother and daughter. Xq deletion phenotypes and counseling issues are reviewed. Copyright © 2001 John Wiley & Sons, Ltd.</description><subject>Adult</subject><subject>Amniotic Fluid - chemistry</subject><subject>Biological and medical sciences</subject><subject>deletion</subject><subject>Deoxyribonuclease HpaII - metabolism</subject><subject>Dosage Compensation, Genetic</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>inactivation</subject><subject>Karyotyping</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Polymerase Chain Reaction</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. 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Lita ; Yu, Judy ; Warburton, Dorothy ; Brown, Stephen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4171-73c5c9fe97a0a17064204daf6a96f0a4a8da1391f828ff8861466b9028aca42a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adult</topic><topic>Amniotic Fluid - chemistry</topic><topic>Biological and medical sciences</topic><topic>deletion</topic><topic>Deoxyribonuclease HpaII - metabolism</topic><topic>Dosage Compensation, Genetic</topic><topic>Female</topic><topic>Gene Deletion</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>inactivation</topic><topic>Karyotyping</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Polymerase Chain Reaction</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>skewing</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brown, Lucia Y.</creatorcontrib><creatorcontrib>Alonso, M. Lita</creatorcontrib><creatorcontrib>Yu, Judy</creatorcontrib><creatorcontrib>Warburton, Dorothy</creatorcontrib><creatorcontrib>Brown, Stephen</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>Brown, Lucia Y.</au><au>Alonso, M. Lita</au><au>Yu, Judy</au><au>Warburton, Dorothy</au><au>Brown, Stephen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2001-01</date><risdate>2001</risdate><volume>21</volume><issue>1</issue><spage>27</spage><epage>30</epage><pages>27-30</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>X chromosome deletion is an infrequent finding in prenatal diagnosis and presents a difficult counseling challenge when it occurs. We present a case of a familial X chromosome long arm deletion discovered in a routine amniocentesis and subsequently in the mother. The pregnancy resulted in the birth of a normal girl, and X chromosome inactivation skewing was demonstrated in both mother and daughter. Xq deletion phenotypes and counseling issues are reviewed. Copyright © 2001 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>11180236</pmid><doi>10.1002/1097-0223(200101)21:1<27::AID-PD971>3.0.CO;2-R</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 2001-01, Vol.21 (1), p.27-30 |
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| language | eng |
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| source | MEDLINE; Wiley Journals |
| subjects | Adult Amniotic Fluid - chemistry Biological and medical sciences deletion Deoxyribonuclease HpaII - metabolism Dosage Compensation, Genetic Female Gene Deletion Gynecology. Andrology. Obstetrics Humans inactivation Karyotyping Management. Prenatal diagnosis Medical sciences Polymerase Chain Reaction Pregnancy Pregnancy. Fetus. Placenta Prenatal Diagnosis skewing X Chromosome |
| title | Prenatal diagnosis of a familial Xq deletion in a female fetus: a case report |
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