A case of Tetrasomy 15q with left cleft lip and alveolus

Abstract Objective In this report, we describe a case of tetrasomy 15q with cleft lip and alveolus (CLA) on the left side, which has an incidence of 1 in 30,000 and rarely shows such external anomalies. Methods The patient was a third child born at 39 weeks of gestation (birthweight: 2702 g) and had an Apgar score of 10/10. The patient exhibited hypotonia, mental retardation, language delay, autism, and movement delay. Results Chromosomal analysis was 47, tetrasomy 15q, with XY + mar in the G-Band test, and 47, XY, +idic (15) (q11.2)ish idic(15)(SNRPN++) in fluorescence in situ hybridisation (FISH)., Conclusions Prader-Willi syndrome (PWS) and Angelman syndrome (AS) also present with gene abnormalitiesy in the region of 15q11-q13; therefore, we compared the clinical characteristics of our patient with those of PWS and AS. This comparison showed that the clinical characteristics of our patient were most similar to the phenotype of AS. The cleft lip and palate were assumed to be an expression of tetrasomy 15q, with gene abnormalities present in the 15q11-q13 region of GABA type A receptor B3 ( GABRB3 ). These abnormalities may be associated with GABRB3 overexpression, resulting in left CLA.