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 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.
Lukusa
T
T
Center for Human Genetics, University Hospital of Leuven, Belgium.
Devriendt
K
K
Holvoet
M
M
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D020223:Chromosome Painting; D002879:Chromosomes, Human, Pair 10; D002881:Chromosomes, Human, Pair 12; D002894:Chromosomes, Human, Pair 4; D005260:Female; D017353:Gene Deletion; D015321:Gene Rearrangement; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*