Germline mosaicism in Rett syndrome identified by prenatal diagnosis
β 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
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