Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

Abstract

We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations, pre/postnatal growth retardation, and psychomotor retardation, most of which have been reported both in partial monosomy 16p and partial trisomy 16q. In addition, he suffered from upper airway stenosis due to possible laryngeal stenosis with subglottic webs. The upper airway stenosis could be a rare complication of partial monosomy 16p or partial trisomy 16q, or a nonspecific malformation resulting from chromosomal abnormalities.