Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))
A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.
Mattia
F R
FR
Department of Pediatrics, David Grant USAF Medical Center, Travis AFB, CA 94535.
Wardinsky
T D
TD
Tuttle
D J
DJ
Grix
A
A
Smith
K A
KA
Walling
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008844:Micrognathism / Q000235:genetics