Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

Vermeesch, Joris Robert; Melotte, Cindy; Salden, Ivo; Riegel, Mariluce; Trifnov, Vladimir; Polityko, A; Rumyantseva, Natalia; Наумчик, И.В.; Starke, Heike; Matthijs, Gert; Schinzel, Albert; Fryns, Jean‐Pierre; Liehr, Thomas

doi:10.1016/j.ejmg.2005.04.018

Cited by 21 publications

(18 citation statements)

References 15 publications

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“…Powis et al [9] speculated that triplication of chromosome 12p could have arisen from telomere to telomere fusion of supernumerary analphoid isochromosome 12p with a normal chromosome 12. Indeed, there are three reports about PKS patients with analphoid inverted duplicated supernumerary marker chromosomes consisting of chromosome 12p [4,17–18]. …”

Section: Discussionmentioning

confidence: 99%

“…The karyotype in the cultured blood lymphocytes is normal in most cases, but one supernumerary isochromosome 12p is present in high percentage in cultured skin fibroblasts and bone marrow cells of the patients [3]. Supernumerary analphoid inverted duplicated chromosome 12p and a supernumerary ring chromosome consisting of two copies of chromosome 12p have also been reported in the rare cases with PKS [4,5]. Clinical features of this syndrome include; mental retardation, pigmentary skin abnormalities, seizures, prominent forehead with temporal balding, hypertelorism, short nose, short neck, flat nasal bridge, flat occiput and macrosomia [6,7].…”

Section: Introductionmentioning

confidence: 99%

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Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

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et al. 2012

Balkan Journal of Medical Genetics

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Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo by conventional cytogenetics and fluorescent in situ hybridization (FISH) analysis. However, this chromosomal abnormality was not detected from the patient’s cultured blood lymphocytes. We report here the third patient with intrachromosomal triplication on the short arm of chromosome 12, presenting a PKS phenotype.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Yakut

Mıhçı

Altiok

et al. 2012

Balkan Journal of Medical Genetics

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“…Different papers describe the use of genomic array analysis for identification of sSMC [15,16,23,24]. The big advantage of this technique is that the exact chromosomal content of the unique-sequence positive sSMC can be determined in one reaction, although targeted FISH is often used following an abnormal array result and is sometimes necessary to determine the structure of the sSMC [24].…”

Section: Discussionmentioning

confidence: 99%

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

et al. 2011

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BackgroundSmall supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. These marker chromosomes may cause an abnormal phenotype or be harmless depending on different factors such as genetic content, chromosomal origin and level of mosaicism. When a sSMC is found during prenatal diagnosis, the main question is whether the sSMC contains euchromatin since in most cases this will lead to phenotypic abnormalities. We present the use of Multiplex Ligation Dependent probe Amplification (MLPA) for rapid distinction between non-euchromatic and euchromatic sSMC.Results29 well-defined sSMC found during prenatal diagnosis were retrospectively investigated with MLPA with the SALSA MLPA centromere kits P181 and P182 as well as with the SALSA MLPA telomere kits P036B and P070 (MRC Holland BV, Amsterdam, The Netherlands). All unique-sequence positive sSMC were correctly identified with MLPA, whereas the unique-sequence negative sSMC had normal MLPA results.ConclusionsAlthough different techniques exist for identification of sSMC, we show that MLPA is a valuable adjunctive tool for rapidly distinguishing between unique-sequence positive and negative sSMC. In case of positive MLPA results, genetic microarray analysis or, if not available, targeted FISH can be applied for further identification and determination of the exact breakpoints, which is important for prediction of the fetal phenotype. In case of a negative MLPA result, which means that the sSMC most probably does not contain genes, the parents can already be reassured and parental karyotyping can be initiated to assess the heritability. In the mean time, FISH techniques are needed for determination of the chromosomal origin.

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“…Less severely affected individuals may present in postnatal life with mental retardation, epilepsy, skin pigmentation, and facial anomalies, including sparse anterior scalp hair, a flat occiput, hypertelorism, a short nose, a flat nasal bridge, and a short neck [8,9]. The diverse phenotype of PKS makes the antenatal sonographic diagnosis difficult.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

et al. 2009

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Pallister-Killian syndrome (PKS), which is also referred to as tetrasomy 12p, was first described by Pallister [1], and later by . This rare chromosomal anomaly is characterized by tissue-specific mosaicism for a supernumerary isochromosome for the short arm of Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++) [16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography. (Korean J Lab Med 2009;29:366-70)

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Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

Cited by 21 publications

References 15 publications

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

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