A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes.
Rooryck
Caroline
C
Burgelin
Ingrid
I
Stef
Marianne
M
Taine
Laurence
L
Thambo
Jean-Benoît
JB
Lacombe
Didier
D
Arveiler
Benoît
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion