Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

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Article

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.

American journal of human genetics - 1 Mar 1993

Tharapel A T, Anderson K P, Simpson J L, Martens P R, Wilroy R S, Llerena J C, Schwartz C E

Abstract excerpt

During a routine prenatal diagnosis we detected a female fetus with an apparent terminal deletion of an X chromosome with a karyotype 46,X,del(X)(q25); the mother, who later underwent premature ovarian failure, had the same Xq deletion. To further delineate this familial X deletion and to determi...

Topics

Adult
Amniocentesis
Blotting, Southern
Child
Chromosome Banding
Chromosome Deletion
DNA Probes
Female
Fetus
Homozygote
Humans
In Situ Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Male

Phenotype

Polymorphism, Restriction Fragment Length

Pregnancy

Primary Ovarian Insufficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 8095365
PMCID: PMC1682144

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8095365-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions.PMID 8095365Read ↗

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