Chromosome 20 long arm deletion in an elderly malformed man.
A 46,XY/46,XY,del(20)(q13-->q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.
Shabtai
F
F
Cytogenetic Laboratory, Hasharon Hospital, Golda Medical Centre, Petah-Tiqva, Israel.
Ben-Sasson
E
E
Arieli
S
S
Grinblat
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000368:Aged; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D017880:Limb Deformities, Congenital; D008297:Male; D009030:Mosaicism