Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA-Binding Proteins

Share to DNA Primers

Share to Genotype

Share to Molecular Sequence Data

Share to Phenotype

Source

Identifiers

PMID: 7726221
DOI: 10.1002/ajmg.1320550305

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies.PMID 7726221Read ↗

[Y chromosome structural abnormalities and Turner's syndrome].Semantic proximity Read ↗

Clinical traits and molecular findings in 46,XX males.Semantic proximity Read ↗

FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum.Semantic proximity Read ↗

Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities.Semantic proximity Read ↗

Variability of sexual phenotype in 46,XX( SRY +) patients: the influence of spreading X inactivation versus position effectsSemantic proximity Read ↗

Phenotypic variability in isodicentric Y patients: study of nine cases.Semantic proximity Read ↗

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.Semantic proximity Read ↗

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.Semantic proximity Read ↗

Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype.Semantic proximity Read ↗

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.Semantic proximity Read ↗

XX true hermaphroditism in Southern African Blacks: Exclusion of SRY sequences and uniparental disomy of the X chromosomeSemantic proximity Read ↗

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).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.