Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report

We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single ma...

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Veröffentlicht in:	American journal of medical genetics 1999-05, Vol.84 (1), p.12-14
Hauptverfasser:	Yaron, Yuval, Feldman, Baruch, Kramer, Ralph L., Kasperski, Stefanie B., Vo, Trieu, Feldman, Gerald L., Johnson, Mark P., Evans, Mark I., Ebrahim, Salah A.D.
Format:	Artikel
Sprache:	eng
Schlagworte:	46,XX/46,XY mosaicism Alleles Apolipoproteins B - genetics Biological and medical sciences Chimera - genetics Fetus - metabolism Gynecology. Andrology. Obstetrics Humans Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Medical sciences Meiosis - genetics Minisatellite Repeats - genetics Mitosis - genetics Mosaicism - genetics Phenotype Polymerase Chain Reaction Prenatal Diagnosis Sex Characteristics Sex Chromosomes - genetics XX/46 XY mosaicism
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Zusammenfassung:	We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism. Am. J. Med. Genet. 84:12–14, 1999. © 1999 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U