Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies.

doi:10.1002/ajmg.1320550305

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Article

Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies.

American journal of medical genetics - 30 Jan 1995

Shankman S, Spurdle A B, Morris D, Rosendorff J, Marques I, Bernstein R, Ramsay M

Abstract excerpt

The extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an...

Topics

Adolescent
Adult
Base Sequence
Child, Preschool
DNA Primers
DNA-Binding Proteins
Disorders of Sex Development
Female
Genotype
Humans
Isochromosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Kruppel-Like Transcription Factors

Male

Molecular Sequence Data

Nuclear Proteins

Phenotype

Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 7726221
DOI: 10.1002/ajmg.1320550305

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7726221-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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