DELETION OF THE LONG ARM OF CHROMOSOME-6 - 2 NEW PATIENTS AND LITERATURE-REVIEW

Authors
EVERS LJM SCHRANDERSTUMPEL CTRM ENGELEN JJM HOORNTJE TM PULLESHEINTZBERGER CFM SCHRANDER JJP ALBRECHTS JCM PETERS J FRYNS JP
Citation
Ljm. Evers et al., DELETION OF THE LONG ARM OF CHROMOSOME-6 - 2 NEW PATIENTS AND LITERATURE-REVIEW, Clinical genetics, 50(3), 1996, pp. 138-144
Citations number
38
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
50
Issue
3
Year of publication
1996
Pages
138 - 144
Database
ISI
SICI code
0009-9163(1996)50:3<138:DOTLAO>2.0.ZU;2-9
Abstract
Two children with a partial monosomy 6q are reported: a girl with an i nterstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a term inal deletion [46,XY,del(6)(q25.1)]. Both children presented with deve lopmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients rep orted in the literature.