AT LEAST 9 CASES OF TRISOMY 11Q23-]QTER IN ONE GENERATION AS A RESULTOF FAMILIAL T(11-13) TRANSLOCATION

Citation
D. Smeets et al., AT LEAST 9 CASES OF TRISOMY 11Q23-]QTER IN ONE GENERATION AS A RESULTOF FAMILIAL T(11-13) TRANSLOCATION, Journal of Medical Genetics, 34(1), 1997, pp. 18-23
Citations number
33
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
34
Issue
1
Year of publication
1997
Pages
18 - 23
Database
ISI
SICI code
0022-2593(1997)34:1<18:AL9COT>2.0.ZU;2-C
Abstract
Carriers of balanced reciprocal translocations may have a (high) risk for producing liveborn children with an unbalanced karyotype. We repor t a large family in which a translocation between the long arm of chro mosome 11 and the short arm of chromosome 13 is segregating in at leas t five generations, During the course of our study 15 carriers of the balanced translocation were identified and nine cases of partial triso my of the long arm of chromosome 11 were defected during pre- and post natal studies. Several of the patients were thoroughly clinically exam ined and compared with similar published cases.