INHERITED DNA AMPLIFICATION OF THE PROXIMAL 15Q REGION - CYTOGENETIC AND MOLECULAR STUDIES

Authors
MIGNON C PARENTE F STAVROPOULOU C COLLIGNON P MONCLA A TURCCAREL C MATTEI MG
Citation
C. Mignon et al., INHERITED DNA AMPLIFICATION OF THE PROXIMAL 15Q REGION - CYTOGENETIC AND MOLECULAR STUDIES, Journal of Medical Genetics, 34(3), 1997, pp. 217-222
Citations number
47
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
34
Issue
3
Year of publication
1997
Pages
217 - 222
Database
ISI
SICI code
0022-2593(1997)34:3<217:IDAOTP>2.0.ZU;2-K
Abstract
In a 15 year old girl, referred for growth retardation, conventional c ytogenetic analysis detected an abnormal 15q(+) chromosome with extra material in the proximal region, inherited from her father and grandfa ther. Using various molecular cytogenetic techniques, including compar ative genomic hybridisation, we showed that the extra chromatin result ed from in situ amplification of DNA sequences located between the loc i D15Z1 and D15S18. On the basis of the clinical features of our patie nt and the late replication of the large amplified region, we searched for functional modifications in the adjacent Prader-Willi syndrome re gion.