Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant.
We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter-->q11.21::q11.23-->qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.
Gillar
P J
PJ
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284-7802.
Kaye
C I
CI
Ryan
S G
SG
Moore
C M
CM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D006552:Hernia, Inguinal / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male