"Compensatory" uniparental disomy of chromosome 21 in two cases.

Bartsch, Oliver; Petersen, Michael B.; Stuhlmann, I; Mau, Günther; Frantzen, Merete; Schwinger, E.; Antonarakis, Stylianos E.; Mikkelsen, Margareta

doi:10.1136/jmg.31.7.534

Cited by 37 publications

(32 citation statements)

References 17 publications

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“…Uniparental disomy in the karyotypically normal cells is a possible, though unlikely, explanation for some of the phenotypic findings in our patient, in particular the severe growth retardation. Some reports have demonstrated the occurrence of uniparental disomy in patients with ring chromosomes [Petersen et al, 1992;Bartsch et al, 1994]. In most of these reports the patients were mosaic for a cell line with a ring which was not a supernumerary chromosome, a situation which differs from the one presented here.…”

Section: Discussioncontrasting

confidence: 67%

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA

et al. 1998

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We describe a 38-year-old adult who has a supernumerary marker chromosome in 40% of metaphase cells which was identified by reverse in situ hybridization with a DNA probe made by microdissection to be derived from chromosome 17. The breakpoints are estimated by G-banding and fluorescence in situ hybridization (FISH) to consist of the region from 17p11.1 to proximal 17q21. The propositus displayed severe growth retardation, kyphoscoliosis, bilateral cataracts, severe calcaneovalgus deformity of the feet, dysmorphic facies, profound mental retardation, and multiple medical problems requiring ongoing medical management. These problems included a mitral valve prolapse with regurgitation, recurrent upper and lower respiratory tract infections, and severe respiratory insufficiency. The relatively long survival of this patient enabled us to describe the natural history of this rare chromosomal mutation.

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Section: Discussioncontrasting

confidence: 67%

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA

et al. 1998

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“…Perhaps the most interesting mechanism leading to UPD is the replacement of an abnormal or missing chromosome with a copy of the normal homologue, dubbed`compensatory UPD' (48,49) (Fig. 4).…”

Section: Compensatory Updmentioning

confidence: 99%

Mechanisms leading to uniparental disomy and their clinical consequences

2000

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“…26,43 The partial monosomy cases described here indicate how deletion of three broad regions of HSA21 contribute to the phenotype of monosomy. The first region, from the centromere to B31.2 Mb produces a severe phenotype.…”

Section: Partial Monosomy 21mentioning

confidence: 99%

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

et al. 2008

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Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype -phenotype correlations. Cases of partial trisomy 21 and other HSA21 rearrangements associated with DS features could identify genomic regions associated with specific phenotypes. We have developed a BAC array spanning HSA21q and used array comparative genome hybridization (aCGH) to enable high-resolution mapping of pathogenic partial aneuploidies and unbalanced translocations involving HSA21. We report the identification and mapping of 30 pathogenic chromosomal aberrations of HSA21 consisting of 19 partial trisomies and 11 partial monosomies for different segments of HSA21. The breakpoints have been mapped to within B85 kb. The majority of the breakpoints (26 of 30) for the partial aneuploidies map within a 10-Mb region. Our data argue against a single DS critical region. We identify susceptibility regions for 25 phenotypes for DS and 27 regions for monosomy 21. However, most of these regions are still broad, and more cases are needed to narrow down the phenotypic maps to a reasonable number of candidate genomic elements per phenotype.

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"Compensatory" uniparental disomy of chromosome 21 in two cases.

Abstract: Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case

Cited by 37 publications

References 17 publications

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA

Mechanisms leading to uniparental disomy and their clinical consequences

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

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