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


METHODS
Patient report.


METHODS
Outpatient clinic of a university hospital.


METHODS
A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter with the same karyotype.


METHODS
None.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.
Martine
M
Cools
Raoul P A
RP
Rooman
Jan
J
Wauters
Yves
Y
Jacqemyn
Marc V L
MV
Du Caju
D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000097:blood / Q000235:genetics*
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone