Journal ArticleDOI
Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
Camille Louvrier,Gregory Egea,Audrey Labalme,Vincent des Portes,Sophie Gazzo,Evelyne Callet-Bauchu,Marianne Till,Damien Sanlaville,Patrick Edery,Caroline Schluth-Bolard +9 more
TLDR
This is the first patient carrying a mosaic neocentric SRC derived from the long arm of chromosome 7.1q31 present in low mosaic and contributes to the delineation of the partial trisomy 7q phenotype.Abstract:
Supernumerary ring chromosomes (SRC) are usually derived from regions adjacent to the centromere. Their identification may be challenging, particularly in case of low mosaicism. Here, we report on a patient who was referred for major in utero growth retardation, severe developmental delay, facial dysmorphism, cleft palate, and hypospadias. The karyotype showed a small SRC in mosaic. The combination of FISH, M-FISH and array-CGH was necessary for a complete characterization of this SRC. M-FISH revealed that the SRC originated from chromosome 7. Array-CGH performed with a 400K oligonucleotide array showed a gain in region 7q22.1q31.1 present in low mosaic. This result was confirmed by FISH using BAC probes specific for chromosome 7. The SRC was a neocentric ring derived from 7q22.1q31.1 and was found in only 8% of the cells. This is the first patient carrying a mosaic neocentric SRC derived from the long arm of chromosome 7. Our study emphasizes the need to combine different techniques and to use adapted bioinformatic tools for low-mosaicism marker identification. It also contributes to the delineation of the partial trisomy 7q phenotype.read more
Citations
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A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Pauline Monin,Nicolas Reynaud,Nadine Hanna,Sophie Dupuis-Girod,Marianne Till,Pauline Arnaud,Audrey Labalme,Eudeline Alix,Coline Poizat-Amar,Marie Faoucher,Lucie Ravella,Bernard Debost,Jean-François Obadia,Jean-Christophe Zech,Catherine Boileau,Damien Sanlaville,Patrick Edery,Audrey Putoux,Caroline Schluth-Bolard +18 more
TL;DR: This is the second report of a patient with trisomy 13 mosaicism displaying a severe aortic root dilatation, and the mechanisms which could explain the mosaic state are discussed, the most likely one being related to the instability of the interstitial telomere.
Journal ArticleDOI
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.
Bárbara Marques,Cristina Ferreira,Filomena Brito,Sónia Pedro,Cristina Alves,Teresa Lourenço,Marta Amorim,Hildeberto Correia +7 more
TL;DR: It is concluded that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling.
Journal ArticleDOI
A marker chromosome in post-transplant bone marrow.
TL;DR: The detection of a marker chromosome in a bone marrow specimen from a patient who received aBone marrow transplantation is reported here and the importance of proper characterization and interpretation of marker chromosomes in clinical practice is discussed.
References
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An international system for human cytogenetic nomenclature
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Neocentromeres: New Insights into Centromere Structure, Disease Development, and Karyotype Evolution
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TL;DR: In this article, the SignatureChip was used for the detection of microdeletions, microduplications, aneuploidy, unbalanced translocations, and subtelomeric and pericentromeric copy number alterations.
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A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?
TL;DR: A mechanism of formation of the mar del(10) chromosome involving the activation of a latent intercalary centromere at 10q25 is supported by cytogenetic and FISH results.
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t(12;21): a new recurrent translocation in acute lymphoblastic leukemia.
TL;DR: Results suggest that t( 12;21) is a recurrent translocation in ALL, and this breakpoint was localized to 21q22.2 in one patient.