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Ring chromosome 9 with a 9p22.3-p24.3 duplication

✍ Scribed by Seghezzi, L.; Maraschio, P.; Bozzola, M.; Maserati, E.; Tupler, R.; Marchi, A.; Tiepolo, L.

Book ID
113043041
Publisher
Springer
Year
1999
Tongue
English
Weight
164 KB
Volume
158
Category
Article
ISSN
0340-6997

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Direct duplication of 9p22?p24 in a chil
Direct duplication of 9p22?p24 in a child with duplication 9p syndrome
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A de novo direct duplication of 9p22β†’p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints in this patient and p

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FISH analysis in detecting 9p duplication (p22p24)
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Authors report on a case of partial 9p duplication, involving the 9p22-9p24 region. This represents the second case of such duplication in which the breakpoints were precisely defined using fluorescence in situ hybridisation (FISH) with chromosome 9 specific painting and YAC DNA probes, localised on

Partial duplication of the short arm of
Partial duplication of the short arm of chromosome 9 (p13β†’p22) in a child with typical 9p trisomy phenotype
✍ J. P. Fryns; P. Casaer; H. Van den Berghe πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 286 KB

A 3-year-old girl with duplication 9 (p22 leads to p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.