DELETION OF CHROMOSOME-2 (P11-P13) - CASE-REPORT AND REVIEW

Authors
PRASHER VP KRISHNAN VHR CLARKE DJ MALISZEWSKA CT CORBETT JA
Citation
Vp. Prasher et al., DELETION OF CHROMOSOME-2 (P11-P13) - CASE-REPORT AND REVIEW, Journal of Medical Genetics, 30(7), 1993, pp. 604-606
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
30
Issue
7
Year of publication
1993
Pages
604 - 606
Database
ISI
SICI code
0022-2593(1993)30:7<604:DOC(-C>2.0.ZU;2-0
Abstract
The case of a young man with del(2) (p11.2p13) is reported. Accounts o f previous cases of deletion of the short arm of chromosome 2 are revi ewed. Common features include mental retardation, proportional short s tature and weight, dysmorphic facial features (a prominent nose, abnor mal ears), and abnormal hands. Growth and developmental delay are pres ent during the postnatal period.