PROTELOMERIC SEQUENCES ARE DELETED IN CASES OF SHORT ARM INVERTED DUPLICATION OF CHROMOSOME-8

Authors
BARBER JCK JAMES RS PATCH C TEMPLE IK
Citation
Jck. Barber et al., PROTELOMERIC SEQUENCES ARE DELETED IN CASES OF SHORT ARM INVERTED DUPLICATION OF CHROMOSOME-8, American journal of medical genetics, 50(3), 1994, pp. 296-299
Citations number
22
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
50
Issue
3
Year of publication
1994
Pages
296 - 299
Database
ISI
SICI code
0148-7299(1994)50:3<296:PSADIC>2.0.ZU;2-V
Abstract
We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic susp icion of a simultaneous deletion of the tip of the short arm and indic ated the maternal origin of the abnormality. This deletion made no det ectable contribution to the phenotype of the patient which was compara ble to that of previous cases of 8p duplication. Similar investigation s of inverted duplications involving other chromosomes may reveal unex pected deletions with significant phenotypic consequences. (C) 1994 Wi ley-Liss, Inc.