A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.
A patient with a proximal deletion of the long arm of chromosome 4 is presented. This patient and 6 others previously described appear to have similar findings of moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance. These patients appear to be quite different from those with more distal 4q deletions.
Beall
M H
MH
Department of Obstetrics and Gynecology, University of Southern California School of Medicine, Los Angeles 90024.
Falk
R E
RE
Ying
K L
KL
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005147:Facial Bones / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome