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

Yuval Yaron; Baruch Feldman; Ralph L. Kramer; Stefanie B. Kasperski; Trieu Vo; Gerald L. Feldman; Mark P. Johnson; Mark I. Evans; Salah A.D. Ebrahim

doi:10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U

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

Yuval Yaron
, Baruch Feldman
, Ralph L. Kramer
, Stefanie B. Kasperski
, Trieu Vo
, Gerald L. Feldman
, Mark P. Johnson
, Mark I. Evans
, Salah A.D. Ebrahim

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	12-14
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	84
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U
State	Published - 7 May 1999
Externally published	Yes

Keywords

46,XX/46,XY mosaicism
Phenotype
Prenatal diagnosis

Access to Document

10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U

Cite this

@article{3c520386e114449daf7167643d255676,

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

abstract = "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.",

keywords = "46,XX/46,XY mosaicism, Phenotype, Prenatal diagnosis",

author = "Yuval Yaron and Baruch Feldman and Kramer, \{Ralph L.\} and Kasperski, \{Stefanie B.\} and Trieu Vo and Feldman, \{Gerald L.\} and Johnson, \{Mark P.\} and Evans, \{Mark I.\} and Ebrahim, \{Salah A.D.\}",

year = "1999",

month = may,

day = "7",

doi = "10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U",

language = "English",

volume = "84",

pages = "12--14",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Blackwell",

number = "1",

}

TY - JOUR

T1 - Prenatal diagnosis of 46,XY/46,XX mosaicism

T2 - A case report

AU - Yaron, Yuval

AU - Feldman, Baruch

AU - Kramer, Ralph L.

AU - Kasperski, Stefanie B.

AU - Vo, Trieu

AU - Feldman, Gerald L.

AU - Johnson, Mark P.

AU - Evans, Mark I.

AU - Ebrahim, Salah A.D.

PY - 1999/5/7

Y1 - 1999/5/7

N2 - 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.

AB - 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.

KW - 46,XX/46,XY mosaicism

KW - Phenotype

KW - Prenatal diagnosis

UR - https://www.scopus.com/pages/publications/0033531961

U2 - 10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U

DO - 10.1002/(SICI)1096-8628(19990507)84:1<12::AID-AJMG3>3.0.CO;2-U

M3 - Article

C2 - 10213039

AN - SCOPUS:0033531961

SN - 0148-7299

VL - 84

SP - 12

EP - 14

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this