A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.
Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
Halal
F
F
Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Vekemans
M
M
Der Kaloustian
V M
VM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D005810:Multigene Family; D011859:Radiography; D014178:Translocation, Genetic