Interstitial deletion of chromosome 2 region in a malformed infant.
We describe an infant with a lumbar meningomyelocele and other congenital anomalies and a de novo deletion of 2q36 with a non-mosaic karyotype 46,XX,del(2)(q36).
Melnyk
A R
AR
Department of Pediatrics, Loyola Children's Hospital, Maywood, IL 60153.
Muraskas
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008591:Meningomyelocele