Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome
- 1 July 1998
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 54 (1), 56-59
- https://doi.org/10.1111/j.1399-0004.1998.tb03694.x
Abstract
Turner syndrome (TS) is a common disorder (1/2500 and 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood (usually due to growth retardation) or later, (due to lack of pubertal development) for the remaining patients. Here we present a cytogenetic and molecular analysis of three monozygotic sisters. The diagnosis of TS was done for one of them (patient 1) who presented with a typical Turner phenotype. A first karyotype was established as normal and a second karyotype (carried out on 200 cells) revealed a 45,X/46,XX mosaicism with 6% of cells with a 45,X karyotype. Lymphocyte karyotype analysis showed the same mosaicism pattern for the two other sisters, one of them exhibiting only a mild (patient 2) and the other no clinical features of Turner syndrome (patient 3). Karyotype analysis was this time conducted on fibroblasts and showed that the 45,X/46,XX mosaicism pattern correlated with the clinical phenotype with 99, 43 and 3% of 45,X cells in patients 1, 2, and 3, respectively. These data suggest that different tissues other than lymphocytes should be subjected to a karyotype analysis when the observed genotype does not correlate with the clinical phenotype.Keywords
This publication has 20 references indexed in Scilit:
- Syndrome de Turner: croissance staturopondérale et maturation osseuse spontanéesArchives de Pédiatrie, 1996
- Prenatal and postnatal prevalence of Turner's syndrome: a registry studyBMJ, 1996
- Fetofetal transfusion in triplets.Archives of Disease in Childhood: Fetal & Neonatal, 1995
- Exclusively paternal X chromosomes in a girl with short statureHuman Genetics, 1993
- Molecular diagnosis of Turner's syndrome.Journal of Medical Genetics, 1992
- Molecular studies of parental origin and mosaicism in 45,X conceptusesHuman Genetics, 1992
- Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?Human Genetics, 1992
- Alkaline transfer of DNA to plastic membraneBiochemical and Biophysical Research Communications, 1984
- A new R-banding technique in clinical cytogeneticsHuman Genetics, 1980
- High Resolution of Human ChromosomesScience, 1976