Ring chromosome 2 in a child with growth failure and few congenital abnormalities

1980 ◽  
Vol 7 (3) ◽  
pp. 383-389 ◽  
Author(s):  
Norman V. Vigfusson ◽  
Kennard J. Kapstafer ◽  
Marilyn A. Lloyd ◽  
John M. Optiz
Keyword(s):  
Congenital Abnormalities ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Chromosome 2

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

2015 ◽  
Vol 145 (1) ◽  
pp. 6-13
Author(s):  
Catherine Sarri ◽  
Sofia Douzgou ◽  
Haris Kontos ◽  
Katherine Anagnostopoulou ◽  
Zeynep Tümer ◽  
...  
Keyword(s):  
Array Cgh ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Fish Analysis ◽  
Chromosome 2 ◽  
Common Pattern ◽  
Ring Chromosomes ◽  
Minor Anomalies ◽  
General Ring

Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

scholarly journals Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

2015 ◽  
Vol 8 (1) ◽  
pp. 17 ◽  
Author(s):  
Mariasavina Severino ◽  
Andrea Accogli ◽  
Giorgio Gimelli ◽  
Andrea Rossi ◽  
Svetlana Kotzeva ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Chromosome 2 ◽  
Brain Malformations

scholarly journals Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Cristian Petter ◽  
Lilia Maria Azevedo Moreira ◽  
Mariluce Riegel
Keyword(s):  
Gene Loss ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Ring Structure ◽  
Deletion Syndrome ◽  
Specific Gene ◽  
Chromosome 13 ◽  
Cell Clones ◽  
Mitotic Instability ◽  
Karyotype Analyses

Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called “dynamic mosaicism”, phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Here, we observed similar mosaicism rates and specific gene loss profile among three individuals with ring chromosome 13 using GTW-banding karyotype analyses along with FISH and CGH-array approaches. Karyotypes results were: patient 1—r(13)(p13q32.3), patient 2—r(13)(p11q33.3), and patient 3—r(13)(p12q31.1). Array-CGH has revealed qualitative genetic differences among patients in this study and it was elusive in precise chromosomal loss statement, ranging from 13 Mb, 6.8 Mb, and 30 Mb in size. MIR17HG and ZIC2 loss was observed in a patient with digital anomalies, severe growth failure, microcephaly and corpus callosum agenesis while hemizygotic EFNB2 gene loss was identified in two patients, one of them with microphtalmia. According to these findings, it can be concluded that specific hemizygotic loss of genes related to development, more than dynamic mosaicism, may be causative of congenital anomalies shown in patients with ring 13 chromosome.

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation

2002 ◽  
Vol 111 (3) ◽  
pp. 319-323 ◽  
Author(s):  
Daniela Giardino ◽  
Palma Finelli ◽  
Silvia Russo ◽  
Giulietta Gottardi ◽  
Ornella Rodeschini ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 2 ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

2017 ◽  
Vol 5 ◽  
pp. 2050313X1769396
Author(s):  
Valeria Paganelli ◽  
Mara Giordano ◽  
Cristina Meazza ◽  
Lucia Schena ◽  
Mauro Bozzola
Keyword(s):  
Short Stature ◽  
Expressive Language ◽  
Growth Failure ◽  
Chromosome 2 ◽  
Mild Mental Retardation ◽  
Speech Delay ◽  
Intragenic Deletion ◽  
Language Problems ◽  
Molecular Karyotype

Background/Objectives: Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay. Results: We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11.2-p12. We observed that some features (short stature, facial dysmorphisms and speech delay) were present in our patient and in patients carrying much larger overlapping deletions. Conclusions: The description of this small intragenic rearrangement might help to elucidate the role of the single genes included in the 2p11.2-p12 critical region.

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