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Article

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

American journal of medical genetics - 1 Jan 1992

Grompe M, Rao N, Elder F F, Caskey C T, Greenberg F

Abstract excerpt

We present a patient with 45,X/46,X,+r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X,+r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of...

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Source

Identifiers

PMID: 1339199
DOI: 10.1002/ajmg.1320420110

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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.

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45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.PMID 1339199Read ↗

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