## Abstract An 11‐year‐old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organ
Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature
✍ Scribed by Žilina, Olga; Reimand, Tiia; Tammur, Pille; Tillmann, Vallo; Kurg, Ants; Õunap, Katrin
- Book ID
- 121338160
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 612 KB
- Volume
- 56
- Category
- Article
- ISSN
- 1769-7212
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Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point muta
From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc