Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
+44 1223 790975
ISSN: ISSN: 2157-7412
+44 1223 790975
Tímea Margit Szabó
Department of Pediatrics, 4012 Debrecen, PO box 32
Hungary
Case Report
Torticollis in 15q11.2 Microdeletion Syndrome: a Rare Association in Angelman-like Syndromes
Author(s): Tímea Margit Szabó, Anikó Ujfalusi, Beáta Bessenyei, Gabriella P. Szabó, Katalin Szakszon, István Balogh and Éva OláhTímea Margit Szabó, Anikó Ujfalusi, Beáta Bessenyei, Gabriella P. Szabó, Katalin Szakszon, István Balogh and Éva Oláh
15q11-13 chromosome region contains five breakpoints (BP1-BP5). Chromosomal rearrangements are common in this region. The microdeletion of BP1-BP2 region represents the 15q11.2 microdeletion syndrome associating with variable phenotype. We investigated a ten years old boy with hypotony. His motoric functions, speech and intellectual development were delayed. He suffered from epilepsy and showed dysmorphic features. Some of these dysmorphic features such us epicanthus and the clynodactyly of the fifth fingers can be observed in Angelman or Prader-Willi syndromes but have not been described in the 15q11.2 microdeletion syndrome so far. He has congenital torticollis that has been described earlier neither in this microdeletion syndrome nor in Prader-Willi - Angelman syndromes. Our aim is to find the possible mechanisms leading to the phenotype using Metilation Specific - Multi Ligand Pro.. View More»