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Article

X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

American journal of medical genetics - 1 Jan 2000

Cianchetti C, Muntoni F, Falchi A M, Nucaro A, Sannio-Fancello G, Cao A, Marrosu M G

Abstract excerpt

Two brothers are reported who share mental retardation, conjunctival teleangectasias (mainly equatorial) and characteristic flat face with small mouth and thin prolabia. At the neuropsychological examination, the older brother at 14 years showed a full scale IQ of 40 (WISC), with verbal IQ 45 and performance IQ 44. The younger brother at 7 years showed a full scale IQ of 58 (WPPSI), with verbal IQ 67 and...

Topics

Adolescent
Child
Conjunctiva
Face
Genetic Linkage
Humans
Intellectual Disability
Male
Multigene Family
Phenotype
Telangiectasis
X Chromosome

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Identifiers

PMID: 1605229
DOI: 10.1002/ajmg.1320430171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1605229-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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