Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14).

doi:10.1111/j.1399-0004.1994.tb04165.x

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Article

Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14).

Clinical genetics - 1 Oct 1994

Petit P, Hilliker C, Van Leuven F, Fryns J P

Abstract excerpt

In this report we describe the mild phenotypic manifestations and normal gonadal function in a 50-year-old mother and her 17-year-old daughter with 4p trisomy resulting from an unbalanced t(X;4)(p22.1;p14) mat. Late replication of the der(X) was demonstrated by BrdU incorporation with spreading of the late replication to the 4p portion as an explanation of the reduced effect of the trisomy 4p/monosomy Xp on the...

Topics

Adolescent
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 4
Dosage Compensation, Genetic
Female
Fertility
Humans
Intelligence
Menstruation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Phenotype

Sex Chromosome Aberrations

Social Behavior Disorders

Telomere

Translocation, Genetic

Trisomy

Source

Open in PubMed

Identifiers

PMID: 7834896
DOI: 10.1111/j.1399-0004.1994.tb04165.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7834896-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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