Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Bélien, Valérie; Gérard-Blanluet, Marion; Serero, Stéphane; Dû, Nathalie Le; Baumann, Clarisse; Jacquemont, Marie‐Line; Dupont, Céline; Krabchi, Kada; Drunat, Séverine; Elbez, Annie; Janaud, Jean-Claude; Benzacken, Brigitte; Verloes, Alain; Tabet, Anne‐Claude; Aboura, Azzedine

doi:10.1002/ajmg.a.32392

Cited by 16 publications

(8 citation statements)

References 17 publications

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“…It is likely that both events occurred coincidentally. Different from this, the sSMC in case 14 contains euchromatin of proximal 22q11.2 which is usually associated with cat eye syndrome (CES) [Liehr et al, 2006;Belien et al, 2008]. Interestingly, case 14 does not have the typical clinical features of CES.…”

Section: Mechanisms Leading To the Formation Of The Ssmcsmentioning

confidence: 99%

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Fiedler²,

Brawner³

et al. 2011

Cytogenet Genome Res

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Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR). Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs

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Section: Mechanisms Leading To the Formation Of The Ssmcsmentioning

confidence: 99%

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Fiedler²,

Brawner³

et al. 2011

Cytogenet Genome Res

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“…Isodicentric chromosome 22 [idic (22)] containing euchromatin of proximal 22q11.2 is associated with CES [Liehr et al, 2006;Belien et al, 2008]. Based on the distal breakpoint of an idic(22), there are 2 types of idic (22)related CES, type I with both distal breakpoints at LCR22A, therefore not containing the VCFS region, and type II with 1 or both distal breakpoints at LCR22D, therefore containing 1 or 2 copies of the VCFS region in addition to 2 copies of the CES region (online suppl.…”

Section: Abnormal Cnvs On Chromosome 22mentioning

confidence: 99%

Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings

Graf

Ramalingam

et al. 2011

Cytogenet Genome Res

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The aims of this study were to create a copy number variant (CNV) profile of human chromosome 22 and to establish a genotype-phenotype correlation for patients with genomic abnormalities on chromosome 22. Thus, 1,654 consecutive pediatric patients with a diversity of clinical findings were evaluated by high-resolution chromosomal microarray analysis (CMA). We identified 25 individuals with abnormal CNVs on chromosome 22, representing 1.5% of the cases analyzed in this cohort. Meanwhile, we detected 1,298 benign CNVs on this chromosome in these individuals. Twenty-one of the 25 abnormal CNVs and the majority of the benign CNVs occurred through involvement of the 8 unstable genomic regions enriched with low copy repeats (LCR22A–H). The highly dynamic status of LCR22s within the 22q11 region facilitates the formation of diverse genomic abnormalities. This CNV profile provides a general perspective of the spectrum of chromosome 22 genomic imbalances and subsequently improves the CNV-phenotype correlations.

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“…The supernumerary marker chromosomes at birth have been reported to range from 0.6 to 2.1 per 1,000 [15][16][17]. The derivative chromosome 22 in the present case might be a congenital chromosomal variation with a normal phenotype, because she had neither any malformation nor past history of illness found in the partial trisomy 22-associated diseases such as Cat eye and supernumerary der(22) t(11;22) syndromes [18,19]. Another possibility was that the derivative chromosome 22 might be an acquired chromosomal abnormality in the epigenetically altered hematopoietic cells [20].…”

Section: Discussionmentioning

confidence: 72%

Persistence of derivative chromosome 22 after achieving a major molecular response in chronic myeloid leukemia with a cryptic BCR-ABL1 fusion gene

et al. 2009

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We herein report the findings of a 47-year-old Japanese female with chronic myeloid leukemia (CML) with a cryptic BCR-ABL1 transcript on chromosome 9 and a derivative chromosome 22 unrelated to BCR-ABL1. Although she achieved and continued to demonstrate a major molecular response to imatinib treatment following interferon-alpha, there was persistence of a derivative chromosome 22. A detailed chromosome/molecular studies, including serial karyotyping analysis, finally resulted in the karyotyping at the disease onset to be 47,XX,+del(22)(q11.2), with two genetic evens, namely a cryptic BCR-ABL1 transcript on chromosome 9 and derivative chromosome 22 unrelated to BCR-ABL1. This CML case with these two rare genetic events thus raises diagnostic issues such as the difficulty in making a concise evaluation of the chromosomal/molecular events and an accurate disease prognosis, as well as the difficulty in determining the disease remission status after treatment.

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Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Cited by 16 publications

References 17 publications

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings

Persistence of derivative chromosome 22 after achieving a major molecular response in chronic myeloid leukemia with a cryptic BCR-ABL1 fusion gene

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