ANOTHER PATIENT WITH A DELETION 14Q11.2Q13

Citation
L. Govaerts et al., ANOTHER PATIENT WITH A DELETION 14Q11.2Q13, Annales de genetique, 39(4), 1996, pp. 197-200
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00033995
Volume
39
Issue
4
Year of publication
1996
Pages
197 - 200
Database
ISI
SICI code
0003-3995(1996)39:4<197:APWAD1>2.0.ZU;2-R
Abstract
We report another case of a de novo interstitial del (14) (q11.2q13). The patient's karyotype was 46, XY, del (14) (q11.2q13) [62]/46,XY [1] . In situ hybridization excluded any additional abnormalities such as a translocation or insertion. The phenotype of our patient is compared with those previously published. Comparison of the chromosome 14 shor t arm polymorphisms of the patient and his parents indicated that the paternal chromosome 14 was deleted.