Possible intrachromosomal duplication in a case of trisomy 9p
β Scribed by H. Chiyo; J. Furuyama; N. Suehara; Y. Obashi; H. Kikkawa; F. Ikoma
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 588 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.
π SIMILAR VOLUMES
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
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.
A de novo direct duplication of 9p22βp24 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
A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported.