The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa

Manasse, Bridget F.; Lekgate, N; Pfaffenzeller, W M; Ravel, Thomy de

doi:10.1097/00019605-200009030-00002

Cited by 23 publications

(17 citation statements)

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“…We agree with Cobben et al that fluorescence in situ hybridization (FISH) on buccal smears has been used to identify PKS in a limited number of publications which assessed a total of 11 patients [Ohashi et al, ; Manasse et al, ; Velagaleti et al, ]; although only a single patient was definitely shown to have the diagnostic isochromosome 12p as the other studies used probes that could not differentiate PKS from mosaic trisomy 12 [Velagaleti et al, ]. The reasons put forth for using buccal mucosa instead of a skin biopsy were a more rapid turn‐around time, a higher percentage of abnormal cells, and a less invasive procedure.…”

Section: To the Editorsupporting

confidence: 77%

Response to Cobben et al. “Array CGH on unstimulated blood does not detect all cases of Pallister‐Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice”

Hodge

Kirmani

2013

American J of Med Genetics Pt A

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Section: To the Editorsupporting

confidence: 77%

Response to Cobben et al. “Array CGH on unstimulated blood does not detect all cases of Pallister‐Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice”

Hodge

Kirmani

2013

American J of Med Genetics Pt A

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“…Tissue specific mosaicism is characteristic, with the proportion of cells containing i(12p) reported to be 0-2% in lymphocytes, 50-100% in skin fibroblasts and buccal mucosal cells, and 100% in amniocytes and bone marrow cells [Ward et al, 1988;Ohashi et al, 1993]. Diagnosis of PKS is usually confirmed by fluorescence in situ hybridization (FISH), using DNA probes specific to chromosome 12p applied to a buccal mucosa sample [McLeod et al, 1991;Manasse et al, 2000] or to skin fibroblasts [Speleman et al, 1991].…”

Section: Introductionmentioning

confidence: 99%

Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p

Yeung¹,

Francis²,

Giouzeppos³

et al. 2009

American J of Med Genetics Pt A

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Pallister-Killian syndrome (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe intellectual impairment, characteristic facial features, and variable structural anomalies. The characteristic cytogenetic abnormality in PKS is a supernumerary isochromosome 12p that confers mosaic tetrasomy. We describe a female child with PKS in whom tetrasomy 12p resulted from a supernumerary ring chromosome containing two copies of chromosome 12cen --> p13, a novel cytogenetic finding. The ring chromosome exhibited tissue-limited mosaicism, being absent in blood but detected in 38% of buccal mucosa cells and 41% of skin fibroblasts. Our patient demonstrated the typical dysmorphic characteristics of PKS, but her development was relatively advanced in comparison to children with isochromosome PKS. Her milder developmental phenotype may be attributable to differences in the mosaic distribution or the genomic content of the ring chromosome compared to mosaic isochromosome 12p.

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“…26 Detection of i(12p) using direct buccal smear preparations by interphase FISH has also been reported to be a rapid, effective, and noninvasive method for confirming the diagnosis of Pallister-Killian syndrome. 14,27 The high rate of i(12p) in buccal mucosa (more than 50%) may be a reflection of minimal selection against i(12p)-positive cells in the tissue through the process of cell divisions either in vivo or in vitro because of its slow turnover rate in vivo and direct analysis without culturing in vitro. Hypopigmentation distributed in whorls along the lines of Blaschko, sometimes termed hypomelanosis of Ito, was seen in our patient (Figure 3), as well as previous reports of Pallister-Killian syndrome.…”

Section: Discussionmentioning

confidence: 99%