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Article

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.

Human genetics - 1 Mar 2000

Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T

Abstract excerpt

We report a mother and two daughters with partial Xp monosomy. Clinical assessment for Turner phenotype revealed that the three females manifested low-normal to mild short stature (-1.6 to approximately -2.3 SD) and variable degrees of skeletal features, such as cubitus valgus, short 4th matacarpals, and Madelung deformity, but no soft tissue or visceral anomalies or gonadal dysfunction. Cytogenetic studies for...

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

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Source

Identifiers

PMID: 10798359
DOI: 10.1007/s004390051042

Genes

SHOX
CYBB
DMD

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.

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Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.PMID 10798359Read ↗

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