NEW HERITABLE FRAGILE SITE WITH SPONTANEOUS EXPRESSION AT 1Q41

Authors
DAR H BAREL H ZIV M SHAPIRO I
Citation
H. Dar et al., NEW HERITABLE FRAGILE SITE WITH SPONTANEOUS EXPRESSION AT 1Q41, American journal of medical genetics, 55(2), 1995, pp. 145-146
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
55
Issue
2
Year of publication
1995
Pages
145 - 146
Database
ISI
SICI code
0148-7299(1995)55:2<145:NHFSWS>2.0.ZU;2-1
Abstract
The report presents a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 1q41 is se gregating. The fragile site is present in the mother and her son. It i s expressed spontaneously in 100% of the metaphases from lymphocyte cu lture using standard conditions. The use of folate deficient medium an d the addition of FUdR to the medium did not affect the appearance nor the level of expression of the fragile site. (C) 1995 Wiley-Liss, Inc .