𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.

✦ 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


Direct duplication of 9p22?p24 in a chil
✍ Fujimoto, Atsuko; Lin, Ming S.; Schwartz, Stuart 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

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

A case of trisomy for the short arm of c
✍ M. E. Käosaar; A. -V. N. Mikelsaar; T. A. Talvik; R. V. -A. Mikelsaar 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 448 KB

A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported.

Complex translocation t(9;21)(9;22)(q12p
✍ Bruno Dallapiccola; Giovanni Bollea; Cristina Mazzilli; Enrico Gandini 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 266 KB

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

Maternal origin of a unique extra chromo
✍ Teraoka, Michio ;Narahara, Koji ;Yokoyama, Yuji ;Ninomiya, Shinsuke ;Mizuta, Sho 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 1 views

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