Malformative syndrome with ring chromosome 13

1974 ◽  
Vol 24 (3) ◽  
Author(s):  
J.P. Fryns ◽  
J. Deroover ◽  
H. Berghe ◽  
J.J. Cassiman ◽  
P. Goffaux ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13 ◽  
Malformative Syndrome

scholarly journals Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin

2021 ◽  
Vol 60 (4) ◽  
pp. 771-774
Author(s):  
Chih-Ping Chen ◽  
Chen-Yu Chen ◽  
Schu-Rern Chern ◽  
Shin-Wen Chen ◽  
Fang-Tzu Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Maternal Origin ◽  
Chromosome 13

scholarly journals Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13

2017 ◽  
Vol 130 (24) ◽  
pp. 3007-3008 ◽  
Author(s):  
Xin-Rong Zhao ◽  
Xu Han ◽  
Yan-Lin Wang ◽  
Wen-Jing Hu
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13 ◽  
Cytogenetic Characterization

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.

Case Report of Ring Chromosome 13: 46,XX,r(13)(p13q34)/46,XX,dic r(13;13)(p13q34;p13q34)

2015 ◽  
Vol 5 (1) ◽  
pp. 123-128
Author(s):  
Maurício Rodrigues ◽  
Renata Moreira ◽  
Patrícia Ribeiro
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chromosome 13

Monosomy and ring chromosome 13 in a thyroid nodular goiter—do we underestimate its relevance in benign thyroid lesions?

2012 ◽  
Vol 205 (3) ◽  
pp. 128-130 ◽  
Author(s):  
Wolfgang Sendt ◽  
Volkhard Rippe ◽  
Inga Flor ◽  
Norbert Drieschner ◽  
Jörn Bullerdiek
Keyword(s):  
Nodular Goiter ◽  
Ring Chromosome ◽  
Chromosome 13 ◽  
Benign Thyroid ◽  
Thyroid Lesions

The ring chromosome 13 syndrome

1982 ◽  
Vol 61 (1) ◽  
pp. 18-23 ◽  
Author(s):  
Nicole J. Martin ◽  
Phillip J. Harvey ◽  
John H. Pearn
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Gene ◽  
2013 ◽  
Vol 529 (1) ◽  
pp. 163-168 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chin-Han Tsai ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Jun-Wei Su ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 13 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition

1998 ◽  
Vol 7 (4) ◽  
pp. 299-301 ◽  
Author(s):  
Koray Boduroglu ◽  
Mehmet Alika??ifoglu ◽  
Erg??l Tun??bilek ◽  
??ebnem Uludogan
Keyword(s):  
Congenital Anomalies ◽  
Ring Chromosome ◽  
Multiple Congenital Anomalies ◽  
Chromosome 13 ◽  
Penoscrotal Transposition

A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature

2014 ◽  
Vol 144 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Chariyawan Charalsawadi ◽  
Worathai Maisrikhaw ◽  
Verayuth Praphanphoj ◽  
Juthamas Wirojanan ◽  
Tippawan Hansakunachai ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13 ◽  
Syndromic Autism
Sign in / Sign up

Export Citation Format

Share Document