2006
DOI: 10.1159/000095658
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Retrospective Diagnosis of Pallister-Killian Syndrome by CGH Array

Abstract: Objective and Methods: We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal po… Show more

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Cited by 6 publications
(5 citation statements)
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“…BAC array and analysis of single nucleotide polymorphism copy number is likely to become the optimal method. Recently Delahaye et al reported a retrospective diagnosis of PKS by CGH array (23) and Gerdes et al using multiband FISH reported a case with tetrasomy 12p (24). It is likely that the SMCs containing two copies of part of 12 that they reported were also an NMC.…”
Section: Discussionmentioning
confidence: 99%
“…BAC array and analysis of single nucleotide polymorphism copy number is likely to become the optimal method. Recently Delahaye et al reported a retrospective diagnosis of PKS by CGH array (23) and Gerdes et al using multiband FISH reported a case with tetrasomy 12p (24). It is likely that the SMCs containing two copies of part of 12 that they reported were also an NMC.…”
Section: Discussionmentioning
confidence: 99%
“…In the setting of prenatally diagnosed CDH, chromosome 12p targeted‐FISH can be an adjunct to routine karyotyping, and may identify PKS cases due to low‐level mosaicism. Similarly, array‐based comparative genomic hybridization (aCGH) may detect low level mosiacism, possibly even in lymphocytes, and has already been used to establish the diagnosis using DNA extracted from formalin fixed paraffin embedded autopsy tissue [Delahaye et al, 2006]. Systematic application of these newer molecular cytogenetic techniques will be needed before conclusions about their diagnostic utility can be drawn.…”
Section: Clinical Aspects Of Selected “Larger” Chromosome Rearrangemementioning
confidence: 99%
“…Even the cytogenetic analysis of fibroblast cells, which often contain a higher proportion of i(12p) cells, requires cell culture which may also result in skewing towards a lower estimation of the true mosaic ratio [Priest et al, 1992]. Recently, it has been shown that array CGH techniques are able to detect tetrasomy 12p in peripheral blood, even when not identified by a standard chromosome analysis [Ballif et al, 2006; Delahaye et al, 2006; Powis et al, 2007; Theisen et al, 2009]. This is likely explained by the fact that CGH is performed on a direct DNA prep from the blood and does not require cell culture with PHA, thereby giving a closer representation of the mosaic level.…”
Section: Introductionmentioning
confidence: 99%