PARTIAL TRISOMY-22 (Q11.2-Q13.1) AS A RESULT OF DUPLICATION AND PERICENTRIC-INVERSION

Authors
PRASHER VP ROBERTS E NORMAN A BUTLER AC KRISHNAN VHR MCMULLAN DJ
Citation
Vp. Prasher et al., PARTIAL TRISOMY-22 (Q11.2-Q13.1) AS A RESULT OF DUPLICATION AND PERICENTRIC-INVERSION, Journal of Medical Genetics, 32(4), 1995, pp. 306-308
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
4
Year of publication
1995
Pages
306 - 308
Database
ISI
SICI code
0022-2593(1995)32:4<306:PT(AAR>2.0.ZU;2-4
Abstract
A case of a 27 year old male with a duplication of part of the long ar m of chromosome 22 (22q11.2-q13.1) together with a pericentric inversi on of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of dai ly living skills, colobomata, and very poor vision. Similarities betwe en this case and other case reports of duplications of the long arm of chromosome 22 are discussed.