Deletion of chromosome 2 (p11-p13): case report and review.
AUTOR(ES)
Prasher, V P
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016464Documentos Relacionados
- Partial deletion 21: case report with biochemical studies and review.
- Interstitial deletion of chromosome 10q23: a new case and review.
- Interstitial duplication of the short arm of chromosome 2: report of a new case and review.
- MURCS association: case report and review.
- Indomethacin retinopathy: case report and review.