Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome‐6‐specific library demonstrates the origin of a de novo 6q+ marker chromosome

Abstract

Brøndum‐Nielsen K, Bajalica S, Wulff K, Mikkelsen M. Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome‐6‐specific library demonstrates the origin of a de novo 6q+ marker chromosome. Clin Genet 1993: 43: 235–239. © Munksgaard, 1993 We report the application of chromosome painting using FISH (fluorescence in situ hybridization) to demonstrate the origin of a de novo 6q + marker chromosome. A girl with a mental retardation/multiple malformation syndrome was shown to have the karyotype 46,XX, 6q+. Banding analysis could not determine the origin of the extra chromosomal material. Using FISH with a chromosome‐6‐specific library we showed that the marker chromosome was completely painted, indicating an origin from chromosome 6. The child's phenotype was compared with previously reported cases with partial chromosome 6 trisomy. A clinically recognized syndrome emerged, although she apparently also demonstrated novel features.

A de novo 6q11—q15 duplication investigated by chromosome painting

“…Previous reports of distal duplication of the long arm of chromosome 6 have established that 6q duplication is associated with a distinct and recognizable syndrome (Brondum-Nielsen et al 1993, Chase et al 1983, Uhrich et al 1991.…”

“…To date, 23 patients with partial trisomy of the long arm of chromosome 6 have been reported (Brondum-Nielsen et al 1993, Chase et aI. 1983, Chen et al 1976, Clark et al 1980, Dallapiccola et al 1978, D'Emma et al 1982, Duca et al 1980, Enriquez-Guerra et al 1986, Fitch 1978, Franchino et al 1987, Neu et al 1981, Ohta et al 1993, Robertson et al 1975, Schmid et al 1979, Schroer et al 1980, Stamberg et al 1981, Taysi et al 1983, Tipton et al 1979, Turleau & de Grouchy 1981, Uhrich et al 1991).…”

Acute myeloid leukaemia associated to chromosome 6: Clinical and phenotypical implications in two pediatric patients with chromosome trisomy and translocation

“…after birth, severe to profound mental retardation, a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation), with malformations of the skull and facial (craniofacial) region as microcephaly, ocular hypertelorism, micrognathia and cleft palate, musculoskeletal abnormalities, and/or additional physical features. Chromosome 6, partial Trisomy 6q, is an extremely rare chromosomal disorder that appears to affect males and females equally (Dellacasa et al, 1993;Brondum-Nielsen et al, 1993;Uhrich et al, 1991;Bartalena et al, 1990;Chase et al, 1983).…”

“…In relation to Chromosome 6, total (Geraedts and Haak, 1976;Moormeier et al, 1991;Jonveaux et al, 1994;La Starza et al, 1998;Mohamed et al, 1998;Onodera et al, 1998;Wong et al, 2004) and partial (Dellacasa et al, 1993;Brondum-Nielsen et al, 1993;Uhrich et al, 1991;Bartalena et al, 1990;Chase et al, 1983) trisomy 6q is an extremely rare chromosomal disorder. Associated symptoms may vary depending on the case.…”

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

“…Eleven cases of de novo pure duplications have been reported. Five cases cover the 6q21q23 region [Pratt et al, 1998; Zneimer et al, 1998; Pazooki et al, 2007], one is restricted to the 6q23 region [Causio et al, 2001], four span the 6q23.3q25.3 region [Ohta et al, 1993; Henegariu et al, 1997; Cappon et al, 2000; Zweier et al, 2008], and one is restricted to 6q26q27 [Brøndum‐Nielsen et al, 1993]. However, the breakpoints have not been defined precisely.…”