FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

Crolla, John A.

doi:10.1002/(sici)1096-8628(19980203)75:4<367::aid-ajmg5>3.0.co;2-n

Cited by 158 publications

(128 citation statements)

References 45 publications

(35 reference statements)

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“…We have therefore excluded for the purposes of the present study any cases that were recruited and analysed as part of defined SMC research protocols. 11,16,19,20 The population served by the WRGL, approximately 2.5 million, over the period of the study has been stable and has not witnessed significant changes in migration patterns as seen in other parts of the UK. The WRGL reports constitutional cytogenetic chromosome results from both perinatal and postnatal patient groups.…”

Section: Discussionmentioning

confidence: 95%

“…FISH was carried out using standard techniques based on a modification of Pinkel et al, 18 and the probes used have been reported previously (eg Crolla 19 and Crolla et al 20 ).…”

Section: Methodsmentioning

confidence: 99%

“…5 -10 From these studies further insights were obtained into karyotype/phenotype correlations, particularly with respect to SMCs derived from chromosomes 15 11 -13 and 22. 14 -16 Delineations of possible phenotypic effects in SMC derived from the other autosomes, however, remains more problematic (reviewed by Crolla 17 ).…”

Section: Introductionmentioning

confidence: 99%

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Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

et al. 2004

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The details of all cytogenetic abnormalities diagnosed in the Wessex Regional Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in the Salisbury Treasury of Interesting Chromosomes (STOIC). From this resource, we identified 137 patients with constitutional autosomal supernumerary marker chromosomes (SMC) ascertained in four principal groups: (i) 37% with abnormal phenotypes; (ii) 7% couples with reproductive difficulties; (iii) 47% antenatal diagnoses and (iv) 9% miscellaneous. Overall, 81 (59%) SMCs were mosaics and 56 (41%) nonmosaics. Of the 109 cases with known parental origins, 70% were de novo, 19% maternally and 11% paternally inherited. The chromosomal origins of 112/137 (82%) of the SMCs have been determined by fluorescence in situ hybridization (FISH). In all, 36/112 (32%) were derived from nonacrocentric autosomes, and 76/112 (68%) from the acrocentric autosomes 13/21, 14, 15 and 22. Of these acrocentric SMCs, 39 (51%) were derived from chromosome 15, so that SMC(15) constituted 39/112 (35%) of all SMCs with known chromosomal origins. The frequencies with which mosaicism was observed varied considerably according to the chromosomal origin of the SMCs and accounted for 8/39 (20%) SMC(15), 13/37 (35%) SMCs from other acrocentrics and 25/36 (69%) of nonacrocentric SMCs. The data were analysed for parental age effects, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age.

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Section: Discussionmentioning

confidence: 95%

“…FISH was carried out using standard techniques based on a modification of Pinkel et al, 18 and the probes used have been reported previously (eg Crolla 19 and Crolla et al 20 ).…”

Section: Methodsmentioning

confidence: 99%

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Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

et al. 2004

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“…In general, the risk for an abnor mal phenotype in prenatally ascertained de novo cases with sSMC is considered to be ~13% [4]. This has been refined to 7% (for sSMC from chromosomes 13, 14, 21 or 22) and 28% (for all non-acrocentric autosomes) [5] and has recently been suggested to be 26-30% [1,6]. Also, BJMG 10/1 (2007) 33-37 10.2478/v10034-007-0006-5 generally speaking, sSMC transmitted by normal sSMC carriers to their progeny are not correlated with clinical problems [7], although exceptions have been described [8].…”

Section: Introductionmentioning

confidence: 99%

Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach

Liehr

Trifonov²,

Polityko³

et al. 2007

Balkan Journal of Medical Genetics

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Small supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unam biguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromo some 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2,211 reported cases (http://www. markerchromosomes.ag.vu) to quickly characterize the sSMC's chro mosomal origin.

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“…The empirical risk for congenital anomalies is approximately 13% for randomly associated de novo SMCs, 3 -6 7% for SMCs derived from acrocentric chromosomes (excluding the 15s), and 28% for SMCs derived from nonacrocentric autosomes. 10 As a result of the high risks and many uncertainties regarding the clinical outcome, many pregnancies with de novo SMC are terminated. However, effective FISH studies can reduce uncertainties, giving affected couples a better reproductive choice.…”

Section: Introductionmentioning

confidence: 99%

Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies

Bartsch

Loitzsch

Kozlowski³

et al. 2005

Eur J Hum Genet

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Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43 273 prenatal diagnoses over a period of 11 years, 1993 -2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212). De novo SMCs were found in 29 pregnancies (1/1492), including 14 euchromatic SMCs (48.2%). Follow-up studies were available for 24 cases. Nine pregnancies (37.5%) were terminated; two children (8.3%) were born with Pallister -Killian syndrome and cat eye syndrome (CES), respectively; 13 children (54.1%) showed apparently normal development. Familial SMCs were identified in 13 pregnancies (1/3328) from 11 unrelated women. They were all acrocentric. In all, 10 were heterochromatic and one was an extra der(22)t(11;22) chromosome. A total of 12 cases were available for follow-up. One pregnancy was terminated due to anhydramnios, spina bifida, and cystic-dysplastic kidneys; one child suffered from a der(22) syndrome; 10 children (83.3%) appeared unaffected. Studies for uniparental disomy were performed on seven pregnancies and revealed a case of maternal heterodisomy for chromosome 22. So far this is the largest FISH study of prenatally ascertained SMCs and the first study with detailed data on the prevalence. Findings illustrate the spectrum and clinical outcomes of prenatally diagnosed SMCs, and indicate a higher frequency of SMCs than generally assumed.

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FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

Cited by 158 publications

References 45 publications

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach

Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies

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