Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome
โ Scribed by McGaughran, Julie ;Aftimos, Salim ;Oei, Paul
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 245 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0148-7299
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We report on a child with apparent Sotos syndrome (cerebral gigantism) and partial duplication of the short arm of chromosome 20 mosaicism. Trisomy 20p11.2-p12.1 was diagnosed using cytogenetic and FISH studies. The somatostatin receptor 4 (SSTR4) gene is included in the duplicated segment. This sug
## Abstract We report a 2โyearโold boy with overlapping manifestations of the Kabuki (NiikawaโKuroki) and Opitz trigonocephaly syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palat