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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Hauptverfasser: | , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 0197-3851 1097-0223 |
DOI: | 10.1002/1097-0223(200101)21:1<27::AID-PD971>3.0.CO;2-R |