A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

Abstract

We describe a de novo dup 17p11 in a boy with Alport syndrome, mild mental retardation, and minor anomalies. Combining classical and molecular cytogenetics analyses, the karyotype was defined as 46,XY.ish dup (17)(p11.2p11.2)(D17S29++,D17S379+). Alport syndrome is associated with mutations in the type IV alpha chain collagen gene, however, no known collagen-related gene is currently mapped to 17p11. Duplications involving 17p11.2 have been reported in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and in a few sporadic patients with mental retardation and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus. Further studies may clarify the meaning of the association between Alport syndrome and duplications of DNA sequences mapped at 17p11.2.

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

“… a The numbers are based on published case reports of trisomy 17p [Bartsch‐Sandhoff et al (12); Feldman et al (13); Jinno et al 1982; Kulharya et al 1998; Latta et al 1974; Martsolf et al (29); Mascarello et al (15); Mikhail et al 2006; Palutke et al (11); Schrander‐Stumpel et al (17); Shabtai et al 1979; Yamamoto et al 1979], dup(17)(p10p12) [Docherty et al (14); Shaw et al (27); Stankiewicz et al 2001; Yatsenko et al (28)] dup(17)(p11.2p12), [Kozma et al (18); Lupski et al 1992; Magenis et al (16); Pellegrino et al (20); Potocki et al 1999; Roa et al (22); Upadhyaya et al (19)], and dup(17)(p11.2p11.2) [Balarin et al (23), Brown et al (21), Potocki et al (24), Schneider et al (25)]. …”

“…Clinically recognized genomic disorders of proximal 17p include Charcot–Marie–Tooth disease type 1A caused by a duplication of the peripheral myelin protein 22 ( PMP22 ) gene (2), hereditary neuropathy with liability to pressure palsies caused by a deletion of PMP22 (3), and Smith–Magenis syndrome, associated with an interstitial deletion of 17p11.2 containing the retinoic acid induced 1 gene ( RAI1 ) (4–10). Duplication of the SMS region and larger regions of the short arm of chromosome 17 has also been reported but less frequently (11–28).…”