Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

2008 ◽  
Vol 146A (7) ◽  
pp. 925-929 ◽  
Author(s):  
Martina Höckner ◽  
Barbara Utermann ◽  
Martin Erdel ◽  
Christine Fauth ◽  
Gerd Utermann ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Healthy Woman ◽  
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.

Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel-Trenaunay Syndrome

2004 ◽  
Vol 68 (4) ◽  
pp. 353-361 ◽  
Author(s):  
A. Anil Timur ◽  
Azita Sadgephour ◽  
Michael Graf ◽  
Stuart Schwartz ◽  
Eric D. Libby ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Klippel Trenaunay Syndrome ◽  
Ring Chromosome 18

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Molecular characterization of the goat CSN1S101 allele

2003 ◽  
Vol 70 (2) ◽  
pp. 237-240 ◽  
Author(s):  
Gianfranco Cosenza ◽  
Rosa Illario ◽  
Andrea Rando ◽  
Paola di Gregorio ◽  
Piero Masina ◽  
...  
Keyword(s):  
Protein Content ◽  
Molecular Characterization ◽  
Single Copy ◽  
Chromosome 6

Caseins (αs1, β, αs2, e κ) represent about 80% of the whole protein content of ruminant milk. Each of these proteins is encoded by single copy genes (CSN1S1, CSN2, CSN1S2 and CSN3, respectively) clustered on a ∼200-kb segment of chromosome 6 (Ferretti et al. 1990; Gallagher et al. 1994) in the order: CSN1S1, CSN2, CSN1S2 and CSN3 (Mercier & Vilotte, 1993). Furthermore, in cattle and goat CSN1S1 and CSN2 are convergently transcribed (Leroux & Martin, 1996; Rijnkles et al. 1997) and are only 20 and 12 kb apart, respectively.

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

Clinical and molecular characterization of de novo loss of function variants inHNRNPU

2017 ◽  
Vol 173 (10) ◽  
pp. 2680-2689 ◽  
Author(s):  
Magalie S. Leduc ◽  
Hsiao-Tuan Chao ◽  
Chunjing Qu ◽  
Magdalena Walkiewicz ◽  
Rui Xiao ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Loss Of Function

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

2017 ◽  
Vol 152 (3) ◽  
pp. 117-121
Author(s):  
My Linh Thibodeau ◽  
Michelle Steinraths ◽  
Lindsay Brown ◽  
Zheyuan Zong ◽  
Naomi Shomer ◽  
...  
Keyword(s):  
De Novo Assembly ◽  
De Novo ◽  
Chromosome Rearrangement ◽  
Healthy Woman ◽  
Asian Woman ◽  
Balanced Translocation ◽  
Gene Desert ◽  
Fusion Event ◽  
Translocation Breakpoints

A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.

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
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