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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...

Topics

Adolescent
Adult
Child
Chromosome Aberrations
Chromosome Deletion
Dosage Compensation, Genetic
Female
Genotype
Hand
Humans
In Situ Hybridization, Fluorescence
Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Microsatellite Repeats

Radiography

Turner Syndrome

X Chromosome

Source

Identifiers

PMID: 10798359
DOI: 10.1007/s004390051042

Genes

SHOX
CYBB
DMD

Provenance

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

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.Semantic proximity Read ↗

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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.Semantic proximity Read ↗

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Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.Semantic proximity Read ↗

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Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.Semantic proximity Read ↗

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Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.Semantic proximity Read ↗

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