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

Lukusa T, Devriendt K, Holvoet M, Fryns JP. Severe mental retardation - distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25qter deletion. CIin Genet 1998: 54: 224–230. 8 Munksgaard, 1998 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 contrdctures have been previously reported in individuals with partial distal 1Oq deletion, this sign should be considered as part of the clinical manifestations of 10q25qter monosomy.