Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

2020 ◽  
Vol 182 (12) ◽  
pp. 3023-3028
Author(s):  
Hongyan Chai ◽  
Weizhen Ji ◽  
Jiadi Wen ◽  
Autumn DiAdamo ◽  
Brittany Grommisch ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 9 ◽  
Chromosome Formation

Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

2013 ◽  
Vol 161 (6) ◽  
pp. 1447-1452 ◽  
Author(s):  
Else la Cour Sibbesen ◽  
Cathrine Jespersgaard ◽  
Daniela Alosi ◽  
Anne-Marie Bisgaard ◽  
Zeynep Tümer
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Review Of The Literature ◽  
Dysmorphic Features

scholarly journals Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

2007 ◽  
Vol 15 (5) ◽  
pp. 548-555 ◽  
Author(s):  
Jeroen Knijnenburg ◽  
Arie van Haeringen ◽  
Kerstin B M Hansson ◽  
Arjan Lankester ◽  
Margot J M Smit ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Terminal Deletion ◽  
Escape Mechanism ◽  
Inverted Duplication ◽  
Chromosome Formation

Ring chromosome 9 in a dysmorphic child

2007 ◽  
Vol 74 (5) ◽  
pp. 507-508 ◽  
Author(s):  
Jayesh Sheth ◽  
Rajesh Joshi ◽  
Frenny Sheth
Keyword(s):  
Ring Chromosome ◽  
Chromosome 9

Apparent Prader-Willi phenotype in a woman with ring chromosome 9

1987 ◽  
Vol 28 (S3) ◽  
pp. 133-138 ◽  
Author(s):  
Russell O. Hess ◽  
Lorraine F. Meisner ◽  
John M. Opitz ◽  
Jay Bernstein
Keyword(s):  
Ring Chromosome ◽  
Chromosome 9

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

2017 ◽  
Vol 153 (4) ◽  
pp. 175-180 ◽  
Author(s):  
Seda Çakmaklı ◽  
Tufan Çankaya ◽  
Semra Gürsoy ◽  
Altuğ Koç ◽  
Özgür Kırbıyık ◽  
...  
Keyword(s):  
Genetic Material ◽  
Ring Chromosome ◽  
Ambiguous Genitalia ◽  
Facial Dysmorphism ◽  
Anal Atresia ◽  
Genetic Condition ◽  
Chromosome 13 ◽  
Live Births ◽  
Phenotypic Spectrum ◽  
Chromosome Formation

Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.

Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature

2016 ◽  
Vol 148 (2-3) ◽  
pp. 165-173 ◽  
Author(s):  
Aswini Sivasankaran ◽  
Murthy K. Kanakavalli ◽  
Deenadayalu Anuradha ◽  
Chandra R. Samuel ◽  
Lakshmi R. Kandukuri
Keyword(s):  
Developmental Delay ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
Facial Dysmorphism ◽  
Chromosomal Microarray Analysis ◽  
Ring Chromosomes ◽  
Normal Fish

Ring chromosomes have been described for all human chromosomes and are typically associated with physical and/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]/46,XY,dic r(9; 9)(p22q34;p22q34)[6]/45, XY,-9[4]/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed.

Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9

1979 ◽  
Vol 50 (1) ◽  
pp. 29-32 ◽  
Author(s):  
J. P. Fryns ◽  
A. Lambrechts ◽  
H. Jansseune ◽  
H. Van den Berghe
Keyword(s):  
Mental Retardation ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Moderate Mental Retardation ◽  
Dysmorphic Syndrome

RING-CHROMOSOME FORMATION

The Lancet ◽  
1968 ◽  
Vol 292 (7565) ◽  
pp. 459 ◽  
Author(s):  
J.E. Gray
Keyword(s):  
Ring Chromosome ◽  
Chromosome Formation

Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation

2004 ◽  
Vol 106 (1) ◽  
pp. 33-38 ◽  
Author(s):  
F. Mertens ◽  
I. Panagopoulos ◽  
T. Jonson ◽  
D. Gisselsson ◽  
M. Isaksson ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 12 ◽  
Chromosome Formation ◽  
Atypical Lipomatous Tumors ◽  
Lipomatous Tumors
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