Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature

Chen, Chih‐Ping; Lin, Chyi-Chyang; Li, Yueh-Chun; Chern, Schu‐Rern; Lee, Chen‐Chi; Chen, Wenlin; Lee, Men-Shan; Wang, Wayseen; Tzen, Chin‐Yuan

doi:10.1002/pd.977

Cited by 19 publications

(9 citation statements)

References 11 publications

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“…The extra inverted duplicated distal 15q chromosome has been previously reported in eight cases with clinical data (5,6,17,14,(18)(19)(20) ( Table 1): six liveborn infants, of whom two (cases 3 and 4) died in the neonatal period and two were fetuses (cases 7 and 8). Data from previous cases and the present one (case 9) suggest that distal 15q tetraploidy has a distinctive phenotype characterized by prominent/wide nasal bridge, microretrognathia, cranial asymmetry/ craniosynostosis, long fingers and toes, hearing loss, developmental/mental retardation, joint defects, and dysmorphic/low-set ears, as reported by Blennow et al (1994), Van (Table 1) suggest that significant developmental genes are located within the region of tetrasomy of 15q23!qter.…”

Section: Discussionmentioning

confidence: 93%

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses

et al. 2005

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Supernumerary marker chromosomes (SMCs) without detectable alphoid DNA are predicted to have a neocentromere and have been referred to as mitotically stable neocentromere marker chromosomes (NMCs). We report the molecular cytogenetic characterization of a new case with analphoid NMC derived from 15q25-->qter using high-resolution comparative genomic hybridization (HR-CGH) and multiplex fluorescence in situ hybridization analyses with various alpha-satellite DNA probes, all-human-centromere probe (AHC), whole chromosome painting probes, and a subtelomere probe. The propositus is a dysmorphic infant who, at age 3 months, showed accelerated growth, partial deafness, and a phenotype similar to that of the eight previously reported cases of distal 15q tetrasomy. Chromosome studies showed that he had a de novo extra SMC in 80% of cells examined. HR-CGH revealed rev ish enh(15)(q25qter). Molecular cytogenetic analysis and molecular DNA polymorphism study demonstrated that this extra SMC is an NMC containing an inverted duplication of the distal long arm of chromosome 15 (tetrasomy 15q25-->qter) which originated paternally, i.e. ish der(15)(qte-->q25::q25[neocen]-->qter)(AHC-, CEP15-, WCP15+, PCP15q++). This case further elucidates the phenotype related to tetrasomy of this specific chromosome segment and represents a new report of a neocentromere on distal chromosome 15q suggesting that this region appears to be susceptible to the formation of neocentromeres.

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Section: Discussionmentioning

confidence: 93%

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses

et al. 2005

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“…There have been at least 13 previously reported cases of tetrasomy 15q in the form of a marker chromosome. 10,11,15,[20][21][22][23][24][25][26][27][28][29] However, in only 10 of the 13 are specific clinical data available ( Table 1) with 9 of the 10 reported as mosaic tetrasomy 15q. Nonetheless, the craniofacial gestalt observed in all our cases is also present in eight of eight cases tetrasomic for 15q25 where clinical images are available ( Table 1).…”

Section: Discussionmentioning

confidence: 99%

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

Levy

Tegay

Papenhausen

et al. 2012

Genetics in Medicine

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Original research articlePurpose: The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome. methods:We carried out comprehensive clinical evaluation of four patients who were identified with a supernumerary marker chromosome. The marker chromosome was characterized by G-banding, fluorescence in situ hybridization, single nucleotide polymorphism oligonucleotide microarray analysis, and immunofluorescence with antibodies to centromere protein C. Results:The marker chromosomes were categorized as being neocentric with all showing tetrasomy for regions distal to 15q25 and the common region of overlap being 15q26→qter.conclusion: Tetrasomy of 15q26 likely results in a distinct syndrome as the patients with tetrasomy 15q26 share a strikingly more consistent phenotype than do the patients with Shprintzen-Goldberg syndrome, who show remarkable clinical variation.Genet Med 2012:14(9):811-818

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“…Most of them were inv dup (15)(q25]qter) (Blennow et al, 1994) and seven cases were diagnosed postnatally in live-born infants while two infants died during the neonatal period ( Van den Enden et al, 1996;Huang et al, 1998). The remaining two cases were diagnosed prenatally (Spiegel et al, 2003;Chen et al, 2004). So far, only one case of NMC (15) with the breakpoint at 15q24 (inv dup (15)(q24]qter) has been reported (Blennow et al, 1994).…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, this case is the first case of an analphoid ring derived from medial chromosome 15q and the first case with partial trisomy of 15q22.2 ] q24.1. Nine cases of NMC (15) with available clinical data have been reported, and they are inv dup (15), with the following chromosomal breakpoints: 15q23, 15q24, 15q25, 15q25.3 (Blennow et al, 1994;Van den Enden et al, 1996;Huang et al, 1998;Rowe et al, 2000;Hu et al, 2002;Spiegel et al, 2003;Chen et al, 2004;Mahjoubi et al, 2005;Schluth et al, 2005). Most of them were inv dup (15)(q25]qter) (Blennow et al, 1994) and seven cases were diagnosed postnatally in live-born infants while two infants died during the neonatal period ( Van den Enden et al, 1996;Huang et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

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

Constantinou

Płowaś

Kałużewski

2007

Cytogenet Genome Res

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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.

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Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature

Cited by 19 publications

References 11 publications

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses

Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

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

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