Format

Send to

Choose Destination
See comment in PubMed Commons below
J Med Genet. 1980 Aug;17(4):319-21.

45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male.

Abstract

A phenotypically normal male was found to have a chromosomal complement of 45,X/46,XY/47,XY, +21. This mosaic pattern has been reported only twice before. Although the patient had apparently fathered two children, he now has progressive impotence, absence of sperm in the seminal fluid, atrophic testes, almost complete absence of germ cells in testicular biopsies, high plasma LH and FSH, and a low normal testosterone. There were no physical characteristics of Turner's or Down's syndromes except for dermatoglyphic features commonly associated with the latter. These observations in this patients emphasise the value of chromosomal studies in multiple tissues in cases of mosaicism with atypical clinical features.

PMID:
6451705
PMCID:
PMC1048580
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk