SMALL INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 (2Q24.3) - FURTHER DELINEATION OF 2Q MEDIAL MONOSOMY SYNDROME

Authors
CHINEN Y TOHMA T IZUMIKAWA Y IHA T GOYA Y NARITOMI K
Citation
Y. Chinen et al., SMALL INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 (2Q24.3) - FURTHER DELINEATION OF 2Q MEDIAL MONOSOMY SYNDROME, JPN J HUM G, 41(3), 1996, pp. 323-328
Citations number
21
Categorie Soggetti
Genetics & Heredity
Journal title
Japanese journal of human genetics → ACNP
ISSN journal
09168478
Volume
41
Issue
3
Year of publication
1996
Pages
323 - 328
Database
ISI
SICI code
0916-8478(1996)41:3<323:SIDOTL>2.0.ZU;2-R
Abstract
We report on a female infant with an interstitial deletion involving 2 q24.3. She had multiple congenital anomalies similar to those in patie nts with del(2)(q31q33) except for an occipital encephalocele. As a re sult of comparison of clinical findings among interstitial 2q deletion s, a distinct 2q medial monosomy syndrome may be delineable in associa tion with a deletion of 2q31.