DE-NOVO DIRECT TANDEM DUPLICATION OF A SMALL SEGMENT OF THE SHORT ARMOF CHROMOSOME-7 (P21.22-]22.1)

Authors
FRANZ HBG SCHLIEPHACKE M NIEMANN G MIELKE G BACKSCH C
Citation
Hbg. Franz et al., DE-NOVO DIRECT TANDEM DUPLICATION OF A SMALL SEGMENT OF THE SHORT ARMOF CHROMOSOME-7 (P21.22-]22.1), Clinical genetics, 50(5), 1996, pp. 426-429
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
50
Issue
5
Year of publication
1996
Pages
426 - 429
Database
ISI
SICI code
0009-9163(1996)50:5<426:DDTDOA>2.0.ZU;2-K
Abstract
We report a boy with duplication of a small segment of the short arm o f chromosome 7 (46,XY, dir dup (7) (p21.2-->22.1). The boy presented w ith supravalvular pulmonary stenosis, atrial septum defect and mental retardation. The origin of the additional material from chromosome 7 w as confirmed by fluorescence in situ hybridization. This technique in combination with the use of single-copy DNA probes may in future help to delineate the phenotype/karyotype correlation.