Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH

Abstract

We report a 21-year-old patient with a de novo mosaic, analphoid ring of chromosome 15q22.2→q24.1. The clinical features of this patient are mild and include tall stature, obesity, striae distensae in the hypogastrium, malocclusion and bilateral gynecomastia with scarce glandular tissue. M-FISH and FISH using a chromosome 15 painting probe indicated that the ring is of chromosome 15 origin. Further CGH analysis and FISH with the PML locus-specific probe demonstrated that the extra material derived from the medial part of the long arm of chromosome 15, including two bands, q22 and q23. Additionally, FISH with BAC probes specific for 15q allowed for a localization of the breakpoints at 15q22.2 and 15q24.1, distal to clones RP11-30M4 and RP11-500O23 respectively. We discuss the relationship between the patient’s genotype and phenotype comparing it to reported cases of trisomy of medial 15q.

Fabrication of electrospun nonwoven mats of polyvinylidene fluoride/polyethylene glycol/fumed silica for use as energy storage materials

“…After reviewing the literature data, we assume that the observed pre‐ and postnatal growth retardation and symmetrical shortening of all the long bones resulted from 15q26.1 deletion, while the features of facial dysmorphism, cardiac defect, and renal defects were the consequence of triplication of the genes, localized at 3q terminal. The loss or gain of IGF1R gene, localized in 15q26.1, was associated with growth retardation and overgrowth, respectively [Schnatterly et al, 1984; Schluth et al, 2005; Constantinou et al, 2007]. Many authors have described the cytogenetic critical region, associated with the dup(3q) syndrome as involving 3q26.3 [Aqua et al, 1995; Rizzu et al, 1997; Faas et al, 2002; Izumi et al, 2008]; however, Battaglia et al [2006] suggested that it was 3q29.…”

Clinical pre‐ and postnatal (step‐by‐step) history of a boy with unbalanced translocation—t(3;15)(q26.33;q26.1)

“…The loss or gain of IGF1R gene, localized in 15q26.1, was associated with growth retardation and overgrowth, respectively [Schnatterly et al, 1984;Schluth et al, 2005;Constantinou et al, 2007]. Many authors have described the cytogenetic critical region, associated with the dup(3q) syndrome as involving 3q26.3 [Aqua et al, 1995;Rizzu et al, 1997;Faas et al, 2002;Izumi et al, 2008]; however, Battaglia et al [2006] suggested that it was 3q29.…”