Incidence and Significance of Chromosome Mosaicism Involving an Autosomal Structural Abnormality Diagnosed Prenatally Through Amniocentesis: A Collaborative Study

Hsu, Lillian Y. F.; Yu, Ming Tsung; Richkind, Kathleen E.; Dyke, Daniel L. Van; Crandall, Barbara F.; Saxe, Debra; Khodr, Gabriel S.; Mennuti, Michael T.; Stetten, Gail; Miller, Wayne A.; Priest, Jean H.

doi:10.1002/(sici)1097-0223(199601)16:1<1::aid-pd816>3.0.co;2-w

Cited by 91 publications

(59 citation statements)

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“…Analysis of several large series of prenatal samples by karyotyping has shown that, of the 0.25-2% mosaic cases that are detected, up to a third comprise segmental imbalances [15,16]. In postnatal clinical diagnosis of patients with developmental anomalies this increases to about half of the mosaic cases [10,17].…”

Section: Introductionmentioning

confidence: 99%

“…In postnatal clinical diagnosis of patients with developmental anomalies this increases to about half of the mosaic cases [10,17]. The majority of mosaic segmental imbalances are marker chromosomes [16]. A smaller number of cases have been reported to consist of mosaic segmental deletions and/or duplications, ring chromosomes and translocations that have a 46,abnormal/46,normal karyotype.…”

Section: Introductionmentioning

confidence: 99%

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Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

et al. 2012

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Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted that such constitutional mosaicisms are derived from postzygotic somatic mutations. However, few studies have tested this assumption. Here we determined the origin of CNVs which coexist with a normal cell line in nine individuals. We show that in 2/9 the CNV originated during meiosis. The existence of two cell lines with 46 chromosomes thus resulted from two parallel trisomy rescue events during postzygotic mitoses.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

et al. 2012

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“…The finding of a sSMC presents a challenge in prenatal diagnosis particularly for prediction of the clinical consequences which will depend on its genetic content, familial occurrence, level of mosaicism and chromosomal origin [1-5] and parental origin of the sSMC related sister chromosomes [6]. According to the review of Liehr and Weise [7] sSMC are to be expected in 0.075% of all analysed prenatal cases.…”

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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“…Excluding marker chromosomes, true mosaicism involving an autosome accounts for 44-47 per cent of all mosaic cases diagnosed in amniocytes (Hsu et al, , 1996. In an earlier survey of 277 autosomal trisomy mosaic cases, 193 cases (70 per cent) were mosaic for a common trisomy [trisomy 20 (103 cases), trisomy 21 (60 cases), trisomy 18 (15 cases), and trisomy 13 (15 cases)], whereas 84 cases (30 per cent) involved a cell line with an autosomal trisomy other than these four better known types .…”

Section: Introductionmentioning

confidence: 99%

Rare Trisomy Mosaicism Diagnosed in Amniocytes, Involving an Autosome Other Than Chromosomes 13, 18, 20, and 21: Karyotype/Phenotype Correlations

Hsu

Neu³

et al. 1997

Prenat. Diagn.

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Incidence and Significance of Chromosome Mosaicism Involving an Autosomal Structural Abnormality Diagnosed Prenatally Through Amniocentesis: A Collaborative Study

Cited by 91 publications

References 46 publications

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

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

Rare Trisomy Mosaicism Diagnosed in Amniocytes, Involving an Autosome Other Than Chromosomes 13, 18, 20, and 21: Karyotype/Phenotype Correlations

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