Supernumerary Ring Chromosome: An Etiology for Pallister-Killian Syndrome?

Lloveras, Elisabet; Canellas, A.; Cirigliano, Vincenzo; Català, Vicenç; Cerdan, Chantal; Plaja, Alberto

doi:10.1159/000347049

Cited by 5 publications

(4 citation statements)

References 9 publications

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“…Although there are limited number of reports on the mosaicism of the isochromosome in peripheral blood cells in PKS patients by I-FISH, microarray studies, and karyotype analysis [ 24 – 27 ]. Studies have shown that phytohaemagglutinin used in lymphocyte cultures promotes the growth of the normal cells, which leads to under- representation or disappearing of the abnormal cells [ 28 – 31 ].…”

Section: Discussionmentioning

confidence: 99%

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

et al. 2018

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BackgroundPallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin.ResultsKaryotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series, whereas in one stillbirth, following the clinical diagnosis of PKS, skin and buccal smear samples were taken, and all karyotypes from cultured fibroblasts revealed a supernumerary i(12p), while I-FISH study showed 60% mosaicism in mucosal cells.ConclusionsWe here share the clinical, cytogenetic and molecular cytogenetic findings of 15 cases with PKS phenotype and the parental origin of seven i(12p) identified by molecular analyses. To our knowledge, this is the largest series of PKS patients with parental origin study from a single center. We believe that our study makes a significant contribution to the literature because we specifically found no differences in the phenotypes of cases with either a maternal or paternal origin of the extra element and differential imprinting appeared not to be a factor.

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Section: Discussionmentioning

confidence: 99%

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

et al. 2018

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“…We reviewed published cases of prenatally diagnosed PKS in second and third trimesters of pregnancy limited to the last 10 years, and we searched through Online Mendelian Inheritance in Man (OMIM), Winter-Baraitser Dysmorphology Database (WBDD) and Phenomizer database to identify anomalies or markers present in PKS that could potentially be seen on prenatal ultrasound in second and third trimesters of pregnancy. [24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] Analysis of collected data was presented. In case of descriptive, retrospective study, institutional ethics committee permission was not necessary; nevertheless, internal bioethics committee has approved study design.…”

Section: Methodsmentioning

confidence: 99%

“…We have performed retrospective analysis of ultrasound findings and cytogenetic results in a cohort of all fetuses with PKS diagnosed prenatally at our institution between October 2014 and August 2015. We reviewed published cases of prenatally diagnosed PKS in second and third trimesters of pregnancy limited to the last 10 years, and we searched through Online Mendelian Inheritance in Man (OMIM), Winter–Baraitser Dysmorphology Database (WBDD) and Phenomizer database to identify anomalies or markers present in PKS that could potentially be seen on prenatal ultrasound in second and third trimesters of pregnancy . Analysis of collected data was presented.…”

Section: Methodsmentioning

confidence: 99%

Targeted prenatal diagnosis of Pallister-Killian syndrome

Kucińska‐Chahwan¹,

Bijok²,

Dąbkowska³

et al. 2017

Prenat Diagn

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“…The mechanism suggested for i(12p) is nondisjunction errors through meiosis, followed by the centromeric misdivision. Other variants for PKS have been reported (Table S2; Lloveras et al, 2013;Yeung, Francis, Giouzeppos, & Amor, 2009).…”

Section: The 3rd Patient (Derivative 12)mentioning

confidence: 99%

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

Alqahtani

Putoux

Dupeyron

et al. 2019

Molec Gen & Gen Med

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BackgroundPallister–Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions, and multiple congenital anomalies. PKS is associated with tissue mosaicism, which is difficult to diagnose through peripheral blood sample by conventional cytogenetic methods and fluorescence in situ hybridization.MethodsHere, we report five patients with PKS. We delineate their clinical phenotypes and we compare them with previously published cases. We used array Comparative Genomic Hybridization (aCGH) with DNA extracted from peripheral blood samples. The five patients have also been tested by conventional cytogenetics techniques.ResultsFour out of five patients showed tetrasomy 12p by aCGH. Three of the four patients have typical i(12p) and one of the four demonstrated atypical tetrasomy 12p. The percentage of mosaicism was as low as 20%. Our cohort exhibited the typical PKS phenotypes.ConclusionOur results demonstrate the efficacy of aCGH for the diagnosis of PKS from DNA extracted from lymphocytes. Thus, for patients suspected of PKS, we recommend performing aCGH on lymphocytes at an early age before proceeding to skin biopsy. aCGH on peripheral blood samples is sensitive in detecting low level of mosaicism and it is less invasive method than skin biopsy. We reviewed also the literature concerning the previously published PKS patients diagnosed by aCGH.

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Supernumerary Ring Chromosome: An Etiology for Pallister-Killian Syndrome?

Cited by 5 publications

References 9 publications

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Targeted prenatal diagnosis of Pallister-Killian syndrome

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

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