Brief clinical report: interstitial deletion of the long arm of chromosome 4, del(4)(q28-->q31.3).
Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation.
Copelli
S
S
Division Endocrinologia, Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina.
del Rey
G
G
Heinrich
J
J
Coco
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013580:Synostosis / Q000235:genetics