2003
DOI: 10.1136/jmg.40.4.e46
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Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay

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Cited by 17 publications
(18 citation statements)
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“…Larger SMC (15) containing no euchromatin or only euchromatin proximal to, but not including the Prader-Willi/Angelman syndromes (PWS/AS) critical region, have generally been associated with a normal phenotype [24,25] . In contrast, larger SMC(15) containing the PWS/AS region are associated with an abnormal phenotype, including developmental delay, dysmorphic features, behavioral problems and autistic features [47] .…”
Section: Genotype/phenotype Correlation In Minsmcmentioning
confidence: 99%
See 1 more Smart Citation
“…Larger SMC (15) containing no euchromatin or only euchromatin proximal to, but not including the Prader-Willi/Angelman syndromes (PWS/AS) critical region, have generally been associated with a normal phenotype [24,25] . In contrast, larger SMC(15) containing the PWS/AS region are associated with an abnormal phenotype, including developmental delay, dysmorphic features, behavioral problems and autistic features [47] .…”
Section: Genotype/phenotype Correlation In Minsmcmentioning
confidence: 99%
“…Parental karyotypes were normal, indicating a de novo origin for the minSMC in the fetus. Molecular analysis for UPD14 was performed by methylation PCR as previously described [15,16] . Analysis by methylation PCR excluded UPD14 (data not shown).…”
Section: Casementioning
confidence: 99%
“…MS-PCR analysis of the MEG3-DMR was carried out as described by Dietz et al 20 Touchdown PCR was used as follows: annealing temperatures were 5 cycles at 70 1C for 30 s, 5 cycles at 65 1C for 30 s and 30 cycles for 60 1C.…”
Section: Methylation-specific Pcr (Ms-pcr)mentioning
confidence: 99%
“…They concluded that matUPD (14) is not a common explanation for the phenotype in patients referred for PWS testing. Another report also indicated that the incidence of matUPD (14) is likely to be low among patients referred for PWS (Dietz et al 2005). In our case, complication by CPP was the other key for diagnosis, suggesting matUPD (14) as the etiology.…”
Section: Discussionmentioning
confidence: 99%