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Germline mosaicism in Rett syndrome identified by prenatal diagnosis

✍ Scribed by F Mari; R Caselli; S Russo; F Cogliati; F Ariani; I Longo; M Bruttini; I Meloni; C Pescucci; K Schurfeld; P Toti; M Tassini; L Larizza; G Hayek; M Zappella; A Renieri


Book ID
110888009
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
94 KB
Volume
67
Category
Article
ISSN
0009-9163

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Mosaicism for an unbalanced reciprocal translocation was identified in cultured amniocytes of a 16-week-old fetus; mos46,XX,der(4)t(4;5)(q34;q12)/46,XX. Parental karyotypes were normal, indicating a de novo origin of the unbalanced translocation in the fetus. The additional chromosomal material on t

MECP2 Mutations in Israel: Implications
✍ Yuval Yaron; Bruria Ben Zeev; Ruth Shomrat; Dani Bercovich; Tova Naiman; Avi Orr πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 92 KB

This report describes molecular analysis of the MECP2 gene in 37 Israeli patients suspected of having Rett syndrome (RTT). The patients were from various Jewish ethnic groups and from Arabic origin. Of the 17 patients with classical RTT, bi-directional sequencing of the coding exons revealed MECP2 m