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.

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

“…These include: (i) deletions of 5q11.2 [25], 6q [26], 7q35-qter [27], distal 13q [28,29], 19p13.3 [30], and 20q13.33 [31]; (ii) duplications on 1q41, 2q37.3, and 8q24.3 [32], 9q [33] and at 22q11.21 [34]; (iii) deletion at Yq with duplication at Yp [35], and deletion of 9p24.3-p24.1 with duplication of 18q12.3-q23 [36]; (iv) supernumerary der(22) syndrome [37]; (v) mosaicism for supernumerary ring chromosome 12 [38] or 18 [39]; and (vi) partial monosomy 16p13.3pter/partial trisomy 16q22qter [40]. The smallest of these microaberrations was identified in the study by Hilger et al [32], describing a de novo microduplication at 2q37.3 with an estimated size of 25kb.…”

Familial occurrence of the VATER/VACTERL association

“…Reported environmental factors include maternal diabetes, uterine vascular pathology, and infertility treatment [13][14][15][16]. However, reports of familial occurrence [11], and the presence of chromosomal (micro-) aberrations in affected individuals [17][18][19][20][21][22][23][24] emphasize the importance of possible genetic factors in the etiology of the disorder.…”

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

“…In accordance with this, previous studies have identified several de novo chromosomal microaberrations, which are likely to be disease causing. [5][6][7][8][9][10][11][12][13][14][15][16] However, none of these de novo chromosomal microaberrations has led to the identification of a disease-causing gene and the etiology in most cases is still unknown.…”