Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)

Citation
A. Villa et al., Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3), AM J MED G, 90(5), 2000, pp. 369-375
Citations number
32
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
90
Issue
5
Year of publication
2000
Pages
369 - 375
Database
ISI
SICI code
0148-7299(20000228)90:5<369:ITDO6A>2.0.ZU;2-N
Abstract
A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7- month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged t o chromosome 6, Although it has been suggested that 6p25 is the critical ba nd involved in the expression of the phenotype of 6p duplication, compariso n of the clinical findings of this case with those from the literature case s showed strong similarities, (C) 2000 Wiley-Liss, Inc.