scholarly journals Restrictive cardiomyopathy with ring chromosome 6 anomaly in a child

2021 ◽  
Vol 25 (10) ◽  
pp. 745-746
Author(s):  
Suleyman Sunkak ◽  
◽  
Aslihan Kiraz ◽  
Mustafa Argun ◽  
Ilkay Erdogan ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Restrictive Cardiomyopathy ◽  
Chromosome 6 ◽  
Ring Chromosome 6

Ring chromosome 6 and i(17q−) in a patient with acute promyelocytic leukemia

1988 ◽  
Vol 34 (2) ◽  
pp. 273-276 ◽  
Author(s):  
Stephen J. Russell ◽  
Helen Walker ◽  
Francis J. Giles ◽  
Anthony H. Goldstone
Keyword(s):  
Acute Promyelocytic Leukemia ◽  
Ring Chromosome ◽  
Promyelocytic Leukemia ◽  
Chromosome 6 ◽  
Ring Chromosome 6

scholarly journals Prenatal Diagnosis of Monosomy 6 and Ring Chromosome 6 in a Fetus with Ventriculomegaly

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 136A-136A
Author(s):  
Craig Anderson ◽  
Nancy J Carpenter ◽  
David Siegler ◽  
Burhan Say
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6

Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis

2002 ◽  
Vol 108 (2) ◽  
pp. 97-104 ◽  
Author(s):  
Maik Urban ◽  
Christiane Bommer ◽  
Cornelia Tennstedt ◽  
Katarina Lehmann ◽  
Gundula Thiel ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Case Reports ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6

Ring chromosome 6: Case report and review

1982 ◽  
Vol 12 (1) ◽  
pp. 109-114 ◽  
Author(s):  
Yoshikazu Nishi ◽  
Osamu Yoshimura ◽  
Koso Ohama ◽  
Tomofusa Usui ◽  
John M. Opitz
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6

Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review

2018 ◽  
Vol 154 (4) ◽  
pp. 201-208 ◽  
Author(s):  
Shu Liu ◽  
Zhiqing Wang ◽  
Sisi Wei ◽  
Jinqun Liang ◽  
Nuan Chen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Gray Matter ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 6 ◽  
Material Loss ◽  
Ring Chromosome 6

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known.

Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6

1987 ◽  
Vol 28 (1) ◽  
pp. 211-214 ◽  
Author(s):  
Kazunori Yoshimitsu ◽  
Yoshikazu Nishi ◽  
Yohnosuke Kobayashi ◽  
Osamu Yoshimura ◽  
Koso Ohama ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6 ◽  
Superoxide Dismutase 2

Ring chromosome 6 in a child with minimal abnormalities

1979 ◽  
Vol 4 (3) ◽  
pp. 271-277 ◽  
Author(s):  
Alessandra Carnevale ◽  
Beatriz Blanco ◽  
Julieta Castillo ◽  
Victoria Del Castillo ◽  
David Dominguez ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6

Ring chromosome 6: Variability in phenotypic expression

1983 ◽  
Vol 16 (4) ◽  
pp. 563-573 ◽  
Author(s):  
J. N. Peeden ◽  
P. Scarbrough ◽  
K. Taysi ◽  
R. S. Wilroy ◽  
S. Finley ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6

scholarly journals Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Satsuki Nishigaki ◽  
Takashi Hamazaki ◽  
Mika Saito ◽  
Toshiyuki Yamamoto ◽  
Toshiyuki Seto ◽  
...  
Keyword(s):  
White Matter ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
White Matter Abnormalities ◽  
Periventricular Heterotopia ◽  
Ring Chromosome 6
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