Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter.
We have investigated a patient with the Robin sequence and a unilateral deficiency of the left forearm. She was found to have a terminal deletion of the long arm of chromosome 4, del(4)(q33). The clinical manifestations of this patient differ from those of 7 previously described patients with a deletion of the same segment.
Menko
F H
FH
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
Madan
K
K
Baart
J A
JA
Beukenhorst
H L
HL
D001132:Arm / Q000000981:diagnostic imaging; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D014457:Ulna / Q000002:abnormalities*