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Article

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.

American journal of medical genetics - 15 Aug 1994

Cole H, Huang B, Salbert B A, Brown J, Howard-Peebles P N, Black S H, Dorfmann A, Febles O R, Stevens C A, Jackson-Cook C

Abstract excerpt

Four cases having mosaicism for a small marker or ring [45,X/46,X,+mar or 45,X/46,X,+r] chromosome were ascertained following cytogenetic studies requested because of minor anomalies (cases 1, 3, and 4) and/or short stature (cases 2 and 4). While all 4 cases had traits typical of Ullrich-Turner syndrome (UTS), cases 1, 3, and 4 had manifestations not usually present in UTS, including unusual facial appearance,...

Topics

Child
DNA Replication
Dosage Compensation, Genetic
Face
Female
Hearing Loss, Conductive
Heart Defects, Congenital
Humans
In Situ Hybridization, Fluorescence
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Intellectual Disability

Mosaicism

Phenotype

Ring Chromosomes

Syndactyly

Turner Syndrome

X Chromosome

Source

Identifiers

PMID: 7801998
DOI: 10.1002/ajmg.1320520204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7801998-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.PMID 7801998Read ↗

Phenotype and X inactivation in 45,X/46,X,r(X) cases.Semantic proximity Read ↗

45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.Semantic proximity Read ↗

Three patients with ring (X) chromosomes and a severe phenotype.Semantic proximity Read ↗

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.Semantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissuesSemantic proximity Read ↗

Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.Semantic proximity Read ↗

Prenatal diagnosis of a mosaic 45,X/46,X,r(X)46,XX with a small ring of the X chromosome.Semantic proximity Read ↗

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.Semantic proximity Read ↗

A small and active ring X chromosome in a female with features of Kabuki syndrome.Semantic proximity Read ↗

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.Semantic proximity Read ↗

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.Semantic proximity Read ↗

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.Semantic proximity Read ↗

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