Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.
A 6 8/12-year-old girl with severe mental retardation, multiple congenital malformations and a de novo distal deletion of the long arm of chromosome 1 [del 1 (q43-->qter)] is here described. A review of the reported patients does not allow to distinguish different phenotypes related to distal deletion 1q42 and/or 1q43.
Ioan
D M
DM
Department of Clinical Genetics, Institute of Endocrinology, C.I. Parhon Bucarest, Roumania.
Maximilian
C
C
Kleczkowska
A
A
Fryns
J P
JP
D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005147:Facial Bones / Q000002:abnormalities*; D005149:Facial Expression; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*