Am J Hum Genet. One pregnancy was terminated due to a lack of growth. Register Sign In.
Ultrasound examination was normal for all. Register Sign In. American Journal of Medical Genetics This test is appropriate for use in individuals with a karyotype of 45, X. This is probably a consequence of greater pairing problems between the X and Y chromosome during male meiosis, as well as perhaps a greater tendency to somatic loss of a Y as compared to an X chromosome.
Routine cytogenetic methods have identified 3 types of chromosomal abnormalities low level sex chromosome mosaicism in Vaughn UTS patients: loss of an entire X chromosome 45,Xstructural X chromosome abnormalities, and mosaicism with an X or Y abnormality.
Five pregnancies were terminated and three were lost to follow-up. Test Catalog Account. PubMed Hsu LY. If no cells are available for analysis, no analysis charges will be incurred. To search and confirm the low-level mosaicism, a higher number of metaphases should be analysed or additional fluorescence in-situ hybridization analysis must be performed.
References Hook EB, Warburton D The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.
This is probably a consequence of greater pairing problems between the X and Y chromosome during male meiosis, as well as perhaps a greater tendency to somatic loss of a Y as compared to an X chromosome. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations.
The male infant showed no abnormal phenotypic features postnatally.