A de novo direct duplication of 9p22→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
Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype
✍ Scribed by J. P. Fryns; P. Casaer; H. Van den Berghe
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 286 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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.
📜 SIMILAR VOLUMES
A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported.
A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba
We report on a girl with the typical trisomy 9p syndrome who had an additional E-sized metacentric chromosome. On the basis of GTG-and CBG-banding, her karyotype was considered to be 47,XX,þder(9)(pter!q13:: q13!q12:) de novo. Results of a ¯uorescence in situ hybridization study using a chromosome 9