Severe mental retardation : distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25 → qter deletion

We present the first report of chromosomal rearrangement involving chromosomes 4, 10 and 12. The proband was a 42-year-old woman with severe mental retardation and multiple congenital anomalies. The most striking physical anomalies were upper limb contractures resulting in distal arthrogryposis. As...

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Bibliographic Details
Published in:Clinical genetics 1998-09, Vol.54 (3), p.224-230
Main Authors: LUKUSA, T, DEVRIENDT, K, HOLVOET, M, FRYNS, J. P
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Biological and medical sciences
Chromosome aberrations
Chromosome Banding
Chromosome Painting
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 4
Female
Gene Deletion
Gene Rearrangement
Humans
Intellectual Disability - genetics
Medical genetics
Medical sciences
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Summary:We present the first report of chromosomal rearrangement involving chromosomes 4, 10 and 12. The proband was a 42-year-old woman with severe mental retardation and multiple congenital anomalies. The most striking physical anomalies were upper limb contractures resulting in distal arthrogryposis. As upper limb flexion contractures have been previously reported in individuals with partial distal 10q deletion, this sign should be considered as part of the clinical manifestations of 10q25-->qter monosomy.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.1998.tb04289.x