A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.

Abstract:

OBJECTIVE:To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome. DESIGN:Patient report. SETTING:Outpatient clinic of a university hospital. PATIENT(S):A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter with the same karyotype. INTERVENTION(S):None. MAIN OUTCOME MEASURE(S):Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis. RESULT(S):The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. Karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint. CONCLUSION(S):This is a rare case of pregnancy in a nonmosaic Turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Cools M,Rooman RP,Wauters J,Jacqemyn Y,Du Caju MV

doi

10.1016/j.fertnstert.2004.02.129

keywords:

subject

Has Abstract

pub_date

2004-10-01 00:00:00

pages

923-5

issue

4

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(04)01098-2

journal_volume

82

pub_type

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