Case Report A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

Balkan, Mahmut; Isi, H; Gedik, Abdullah; Erdemoğlu, Mahmut; Budak, Turgay

doi:10.4238/vol9-3gmr947

Cited by 8 publications

(4 citation statements)

References 18 publications

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“…The presence of a sSMC(14) is very rare [ 12 ] and among sSMC(14) cases with clinical signs, dysmorphic features and mental retardation are most often reported [ 8 ]. Regarding sSMC(22), 70 % of carriers are clinically normal [ 13 ] but distinct pathologic phenotypes, including CES (cat-eye syndrome, OMIM #115470) and ES (Emanuel syndrome, OMIM #609029) are associated with sSMC(22). The majority of CES is caused by bisatellited isodicentric marker chromosome containing CES critical region located in the most proximal 2-2.5 Mb of 22q11 [ 14 ] and ES is most often caused by a balanced translocation, t(11;22)(q23;q11.2), in one of the parents.…”

Section: Discussionmentioning

confidence: 99%

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

et al. 2016

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BackgroundMarker chromosomes are small supernumerary chromosomes that cannot be unambiguously identified by chromosome banding techniques alone. However, the precise characterization of marker chromosomes is important for prenatal diagnosis and proper genetic counseling. In this study, we evaluated the chromosomal origin of marker chromosomes using a combination of banding cytogenetics and molecular cytogenetic techniques including diverse fluorescence in situ hybridization (FISH) assays and array comparative genomic hybridization (array CGH).ResultsIn a series of 2871 patients for whom cytogenetic analysis was requested, 14 cases with small supernumerary marker chromosomes (sSMCs) were identified. Nine sSMCs were mosaic, and five nonmosaic. Of the nine cases with known parental origins, four were identified as de novo, and four and one were maternally and paternally inherited, respectively. Six sSMCs were identified by FISH using centromeric probes; three sSMCs were derived from chromosome 15, including two heterochromatic sSMC(15)s and a large sSMC(15) spanning 15q11.1q13.1, and three sSMCs originated from chromosome 14 or 22. Array CGH revealed two cases with derivatives of chromosome 2 and whole chromosome painting multicolor-FISH (M-FISH) identified three cases with derivatives of chromosome 6, 16, and 19, respectively. One maker chromosome in Turner syndrome was characterized as sSMC(X) by preferential application of a centromeric probe for X-chromosome. In addition, one sSMC composed of genomic materials from chromosomes 12 and 18 was identified in parallel with parental karyotype analysis that revealed the reciprocal balanced translocation.ConclusionsThis report is the largest study on sSMCs in Korea and expands the spectrum of sSMCs that are molecularly characterized.Electronic supplementary materialThe online version of this article (doi:10.1186/s13039-016-0273-5) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

et al. 2016

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“…Les MCS sont retrouvés dans 0.288% en cas de retard mental, 0.125% en cas d'hypofertilité (hommes 0.165% versus femmes 0.022%) [ 3 ]. Mais certains MCS sont sans conséquence phénotypique [ 16 ]. Ils impliquent essentiellement les régions péricentromériques, les régions satellites des bras courts des chromosomes acrocentriques et généralement ne contiennent pas d'euchromatine.…”

Section: Discussionunclassified

Marqueurs chromosomiques: à propos d'un cas

Samri¹,

Bouguenouch²,

Hamdaoui³

et al. 2013

Pan Afr Med J

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Les marqueurs chromosomiques peuvent être définis comme des petits chromosomes de structure anormale présents en addition aux 46 chromosomes humains connus. C'est un groupe hétérogène d'anomalies de structure chromosomique pouvant être avec ou sans conséquence phénotypique. Plusieurs tentatives sont réalisées afin de retrouver une corrélation génotype-phénotype lors de la présence d'un marqueur chromosomique. L'identification du marqueur, son origine et sa structure suit une stratégie bien codifiée actuellement allant d'abord de l'orientation clinique suivie des techniques de cytogénétique conventionnelle (caryotype métaphasique standard, bandes C, NOR) et de cytogénétique moléculaire (M-FISH, CGH, CGH array) puis une détection par des techniques plus ciblées (painting, sondes locus spécifique). Cet ensemble permet une meilleure analyse et correspondance clinico-génétique. Nous rapportons le cas d'un nourrisson présentant une dysmorphie faciale avec un retard psychomoteur dont l'analyse cytogénétique a révélé la présence d'un marqueur chromosomique avec un caryotype métaphasique 47,XX,+mar. A travers cette observation, nous mettons en valeur le rôle de la cytogénétique conventionnelle et moléculaire dans le diagnostic des syndromes dysmorphiques permettant une meilleure prise en charge du patient et un conseil génétique adéquat pour sa famille

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“…The variability of clinical features in CES range from near normal to severe malformations. [18][19][20] The recurrence risk for offspring of an affected parent may be close to 50%. This SMC proved to be syndromic and hence clinically pathogenic.…”

Section: (Case P8 )-Acrocentric Derivative Der(22) (Postnatal)mentioning

confidence: 99%

Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples

Lall¹,

Joshi²,

Agarwal³

et al. 2019

OGIJ

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Objectives:The supernumerary marker chromosomes (SMCs) are extra structurally abnormal chromosomes that cannot be unambiguously identified or characterised by conventional karyotyping. Their clinical phenotypes are variable and are dependent on their size, gene content, inheritance and level of mosaicism. In the past, fluorescence in situ hybridization (FISH) and related techniques were used to identify the chromosome origin, but the molecular makeup was still unknown. Chromosome microarray analysis (CMA) can detect the exact genomic breakpoints and gene content of the SMC. This can be correlated with the phenotype for better genetic counselling Methods: In the last 5 years, out of 20,000 samples referred for various reasons for karyotyping, we found 18 SMCs (0.09%) as unexpected results, nine were prenatal samples and nine were postnatal. All eighteen samples were subjected to CMA to characterize the SMCs. FISH was done for identification or validation, wherever possible.Results: Out of 18 SMCs, 14 were successfully characterized: eight (57.14%) were acrocentric chromosomes [seven der(15) and one der (22)], five (35.71%) were nonacrocentric chromosomes [der(9) , der(11), der(12), two der(18)] and one (7.14%) was a complex, novel SMC originating from the maternal translocation t(10;13). The remaining four were very small and heterochromatic with normal array reports.Seven had SMC-related known syndromes such as 15q11q13 duplication syndrome (n=2), Cat Eye syndrome, Trisomy 9p syndrome, i(12)p Pallister Killian syndrome and the rare Trisomy 18p syndrome(n=2). Conclusion:The results, their molecular relevance and pathological significance for genetic counselling were discussed case by case individually. The study emphasizes the usefulness of CMA in identification and characterization of the additional genetic material of the SMC which can be correlated with the phenotypes of the postnatal patient for future management and also the clinical significance conveyed to the parents when the SMC is found in the prenatal samples.

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Case Report A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

Cited by 8 publications

References 18 publications

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

Marqueurs chromosomiques: à propos d'un cas

Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples

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