Mosaic trisomy (8)(p22 ? pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Pater, Jennie M.; Kroes, HY; Verschuren, Monique; Oppen, A. C. C. van; Albrechts, J. C. M.; Engelen, J. J. M.

doi:10.1002/pd.1097

Cited by 6 publications

(2 citation statements)

References 21 publications

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“…Nowadays, different molecular cytogenetic techniques have been developed for identification of sSMC, such as FISH techniques like cenM- and subcenM-FISH [8,9], multicolour banding (MCB)[10], microdissection followed by reverse FISH [11,12], spectral karyotyping (SKY) [13], M-FISH [14] and genomic microarray analysis [15,16]. These techniques are expensive and not available in all cytogenetic laboratories [17].…”

Section: Introductionmentioning

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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Section: Introductionmentioning

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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“…Copyright © 2007 S. Karger AG, Basel Neocentromeres are new centromeres formed at previously non-centromeric locations. A neocentromere is a rare phenomenon; to date, 77 cases of neocentromeres involving 19 different human chromosomes have been described (Warburton, 2004;Amor et al, 2005;Chuang et al, 2005;de Pater et al, 2005;Huang et al, 2005;Mahjoubi et al, 2005;Tonnies et al, 2006;Yu et al, 2007). It is assumed that the neocentromere can occur on any of the chromosomes.…”

Section: Resultsmentioning

confidence: 99%

A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6

Qin

Bartley

Wang³

et al. 2007

Cytogenet Genome Res

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Parental chromosome studies were referred to us after initial finding of a balanced translocation involving chromosomes 4 and 15 in their phenotypically abnormal male child (cytogenetic analysis was done at another laboratory). In addition to the same 4;15 translocation, the father also had an interstitial deletion of the long arm of one chromosome 6 and a marker chromosome. In this article, we report a neocentromere on this marker, which was determined to be composed of chromosome 6 material by FISH. The child’s karyotype was re-interpreted to be unbalanced due to the presence of the abnormal chromosome 6, but without the marker. The clinical phenotype associated with the interstitial deletion of chromosome 6 is also reported.

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Current awareness in prenatal diagnosis

2005

Prenat. Diagn.

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Mosaic trisomy (8)(p22 ? pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Abstract: Accurate identification of the marker chromosome was very important for prenatal counselling. Combining the results of GTG- and C-banding analysis with the results of the (micro)FISH, we concluded that the patient's karyotype is: mos 47,XX,+mar.rev ish der(8)(p22 --> pter)[50]/46,XX[50].

Cited by 6 publications

References 21 publications

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

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

A neocentromere derived from a supernumerary marker deleted from the long arm of chromosome 6

Current awareness in prenatal diagnosis

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