Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.
Clin Genet
; 54(3): 224-30, 1998 Sep.
Article
in En
| MEDLINE
| ID: mdl-9788726
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 10
/
Gene Deletion
/
Intellectual Disability
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Clin Genet
Year:
1998
Document type:
Article
Affiliation country:
Belgium