Pure trisomy 19p syndrome in an infant with an extra ring chromosome

Abstract

We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears. Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p.

Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p

“…2. However, the sSMC 19p described by Novelli et al (2005) was similar in euchromatin content and in size to that seen in our case, and both groups used the same FISH probes to establish chromosomal origin. All three cases were present in mosaic form, and, despite the fact that Novelli's patient was too young to permit precise determination of neurobehavioral characteristics, all three cases show that sSMC 19p present in mosaic form is compatible with life but not without permanent support and help.…”

“…Almost all reported cases of sSMCs derived from chromosome 19 can be found on Thomas Liehr's website (www.med. uni-jena.de/fish/sSMC/19.htm#Start19); however, according to the molecular-cytogenetic findings, only one reported case is suitable for comparison with our case (Novelli et al, 2005). All other registered cases of sSMC 19 were composed of portions of the 19p and 19q arms.…”

“…The clinical findings of this case were obtained upon request to the editor of the database (www.rarechromo.org). Table 2 displays detailed descriptions of neurobehavioral characteristics and phenotypic abnormalities observed for these two reported cases and for our patient (Novelli et al, 2005; www.rarechromo.org). Severe psychomotor retardation as well as abnormalities of the face and extremities have been observed in all three patients.…”

Characterisation of supernumerary chromosomal markers: a study of 13 cases

“…uni-jena.de/ ϳ huwww/MOL_ZYTO/sSMC.htm, marker chromosomes derived from chromosome 19 are rare. In eight cases associated with an abnormal phenotype, clinical signs are heterogeneous and no specific syndrome has been drawn, presumably due to the variable genetic content of these markers (Quack et al, 1992;Ghaffari et al, 1998;Vaz et al, 1999;Shahman et al, 2004;Cotter et al, 2005;Novelli et al, 2005;Liehr et al, 2006). Only three of the 11 reported cases were fortuitously discovered, without clinical signs.…”

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

“…Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. 20 The clinical finding in one patient with an SMC for chromosome 19p was developmental delay. 21 A 9-year-old boy with psychomotor retardation had a small mosaic sSMC.…”