Topic
Ring chromosome
About: Ring chromosome is a research topic. Over the lifetime, 1546 publications have been published within this topic receiving 31061 citations. The topic is also known as: supernumerary circular chromosome.
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TL;DR: A 4 year 3 month old boy with insulin dependent diabetes mellitus, autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described, and it is speculated that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.
Abstract: A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.
23 citations
TL;DR: It is suggested, as a result of comparisons of the frequency of the losses found with the amount of change of the sex ratio caused by the same dosage, that a major part of the Losses ofX andY are lethal to the zygote.
Abstract: 1. A method for detecting non-lethal losses ofX- andY-chromosomes produced by irradiation of mature sperm ofDrosophila is described in detail.
23 citations
TL;DR: Evidence is accumulating that the dicentric nature of the Robertsonian and ring chromosome is the initiating factor in the formation of the complex iAMP21 structure and may provide insight into how other complex rearrangements arise in cancer.
23 citations
TL;DR: The phenotypic appearance of the 16‐month‐old male patient with ring chromosome 4 and deletion of Wolf–Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices is compared with the previously reported 16 cases in the medical literature.
Abstract: We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature.
23 citations
TL;DR: Detailed analysis by G banding revealed the loss of the whole of band q21 and part of bands q13 and q22 in a child with congenital malformations and a de novo interstitial deletion of the long arm of chromosome 4.
Abstract: A child with congenital malformations and a de novo interstitial deletion of the long arm of chromosome 4 is described. Detailed analysis by G banding revealed the loss of the whole of band q21 and part of bands q13 and q22. The clinical abnormalities are quite dissimilar from those features described in other cases of partial 4q monosomy, which generally appear to result from the deletion of more distally placed segments of the chromosome.
23 citations