Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

doi:10.1007/s10038-006-0023-3

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Article

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Journal of human genetics - 1 Jan 2006

Bonnet C, Grégoire M J, Brochet K, Raffo E, Leheup B, Jonveaux P

Abstract excerpt

Males with duplications within the short arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. Here we describe the first detailed characterization of a de-novo Xp duplication delineated to Xp11.22-->Xp11.23 in a 15-year-old male with moderate mental impairment, autistic-like behaviour, short stature, and mild dysmorphic features. Chromosome analysis (550 band resolution) was...

Topics

Adolescent
Autistic Disorder
Chromosomes, Human, X
Female
Gene Duplication
Humans
Intellectual Disability
Male
Phenotype
Sex Chromosome Aberrations

Source

Open in PubMed

Identifiers

PMID: 16900295
DOI: 10.1007/s10038-006-0023-3

Genes

FTSJ1
HDAC6
PQBP1

Provenance

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