Prenatal diagnosis of 45,X/46,XY mosaicism in a fetus with asymmetric gonadal dysgenesis

An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.

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Bibliographische Detailangaben
Veröffentlicht in:	Prenatal diagnosis 1987-09, Vol.7 (7), p.521-524
Hauptverfasser:	Kirkilionis, A. J., Rodney, P., Sergovich, F. R., Armstrong, R.
Format:	Artikel
Sprache:	eng
Schlagworte:	45,X/46,XY Abortion, Therapeutic Adult Amniocentesis Asymmetric gonadal dysgenesis Female Fetal Diseases - diagnosis Gonadal Dysgenesis - diagnosis Gonadal Dysgenesis, Mixed - diagnosis Humans Male Maternal Age Mosaicism Phenotype Pregnancy Pregnancy, High-Risk Prenatal diagnosis X/46
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Beschreibung
Zusammenfassung:	An 18 week abortus had been prenatally diagnosed as a 45,X/46,XY mosaic. The fetus was a phenotypic male with glandular hypospadias, a horseshoe kidney and asymmetric gonadal dysgenesis. This case represents a rare instance of prenatally diagnosed 45,X/46,XY mosaicism with an abnormal phenotype.
ISSN:	0197-3851 1097-0223
DOI:	10.1002/pd.1970070708