Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

2005 ◽  
Vol 137A (1) ◽  
pp. 59-64 ◽  
Author(s):  
G. von Beust ◽  
S.M. Sauter ◽  
T. Liehr ◽  
P. Burfeind ◽  
I. Bartels ◽  
...  
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
De Novo ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 7 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Ring Chromosome 7

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

2008 ◽  
Vol 146A (22) ◽  
pp. 2955-2959 ◽  
Author(s):  
Veronica Bertini ◽  
Angelo Valetto ◽  
Angela Uccelli ◽  
Alice Bonuccelli ◽  
Enrico Tarantino ◽  
...  
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 7 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
Ring Chromosome 7

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7

2015 ◽  
Vol 147 (2-3) ◽  
pp. 111-117 ◽  
Author(s):  
Camille Louvrier ◽  
Grégory Egea ◽  
Audrey Labalme ◽  
Vincent Des Portes ◽  
Sophie Gazzo ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Complete Characterization ◽  
Chromosome 7 ◽  
Oligonucleotide Array ◽  
Facial Dysmorphism ◽  
Bioinformatic Tools

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.

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