45,X/46,XY mosaicism: report of 27 cases.

doi:10.1542/peds.104.2.304

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Article

45,X/46,XY mosaicism: report of 27 cases.

Pediatrics - 1 Aug 1999

Telvi L, Lebbar A, Del Pino O, Barbet J P, Chaussain J L

Abstract excerpt

OBJECTIVES: There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed cases show a normal male phenotype, whereas the postnatally diagnosed cases show a wide spectrum of phenotypes. This 10% risk of an abnormal outcome in prenatally diagnosed cases requires further attention. The purpose of the present study is to provide...

Topics

Disorders of Sex Development
Gonadal Dysgenesis, Mixed
Humans
Karyotyping
Male
Mosaicism
Phenotype
Sex Chromosome Aberrations
Turner Syndrome
Y Chromosome

Source

Open in PubMed

Identifiers

PMID: 10429013
DOI: 10.1542/peds.104.2.304

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