Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.
Schinzel
A
A
Institute of Medical Genetics, University of Zürich, Switzerland.
Binkert
F
F
Lillington
D M
DM
Sands
M
M
Stocks
R J
RJ
Lindenbaum
R H
RH
Matthews
H
H
Sheridan
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D012640:Seizures / Q000235:genetics; D012886:Skull / Q000002:abnormalities*