Proximal deletion of the long arm of chromosome 1: [del(1)(q23-q25)].
A patient with bilateral complete cleft of the lip and palate (CLP) had a proximal deletion of the long arm of chromosome 1 (1q). This rare chromosomal abnormality was characterized by pre- and postnatal growth retardation, psychomotor retardation, and specific craniofacial and other systemic anomalies. There is a high incidence of CLP in proximal 1q deletion syndrome, especially bilateral CLP. Twelve other cases reported in the literature having this deletion and associated anomalies were reviewed.
Lo
L J
LJ
Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taipei, Taiwan, R.O.C.
Noordhoff
M S
MS
Huang
C S
CS
Chen
K T
KT
Chen
Y R
YR
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities