Article
Detection of Y chromosome sequences in a 45,X/46,XXq--patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH).
American journal of medical genetics - 13 Feb 1995
Kocova M, Siegel S F, Wenger S L, Lee P A, Nalesnik M, Trucco M
Abstract excerpt
In some cases of gonadal dysgenesis, cytogenetic analysis seems to be discordant with the phenotype of the patients. We have applied techniques such as Southern blot analysis and fluorescent in situ hybridization (FISH) to resolve the phenotype/genotype discrepancy in a patient with ambiguous genitalia in whom the peripheral blood karyotype was 45,X. Gonadectomy at age 7 months showed the gonadal tissue to be...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.