Deletion of chromosome 2 (p11-p13): case report and review.
The case of a young man with del(2) (p11.2p13) is reported. Accounts of previous cases of deletion of the short arm of chromosome 2 are reviewed. Common features include mental retardation, proportional short stature and weight, dysmorphic facial features (a prominent nose, abnormal ears), and abnormal hands. Growth and developmental delay are present during the postnatal period.
Prasher
V P
VP
Department of Psychiatry, Birmingham University, Queen Elizabeth Psychiatric Hospital, Edgbaston, UK.
Krishnan
V H
VH
Clarke
D J
DJ
Maliszewska
C T
CT
Corbett
J A
JA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005147:Facial Bones / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male