| Title | Deletion of chromosome 2 (p11-p13): case report and review. | | Author(s) | Prasher VP, Krishnan VH, Clarke DJ, Maliszewska CT, Corbett JA | | Institution | Department of Psychiatry, Birmingham University, Queen Elizabeth Psychiatric Hospital, Edgbaston, UK. | | Source | J Med Genet 1993 Jul; 30(7):604-6. | | MeSH | Abnormalities, Multiple
Adult
Chromosome Deletion
Chromosomes, Human, Pair 2
Facial Bones
Growth Disorders
Hand Deformities, Congenital
Humans
Male
Mental Retardation
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Review
| | PubMed ID | 8411037 |
|
