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 2.5 years old patient with a cleft lip, club foot, mental retardation and cryptorchidism is reported with ring 18 syndrome, which is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformations, hypotonia and other skeletal abnormalities.
Abstract: Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo A ring chromosome forms when due to deletion both ends of chromosome fuse with each other Depending on the amount of chromosomal deletion, the clinical manifestations may be different So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformations, hypotonia and other skeletal abnormalities Here we report a 25 years old patient with a cleft lip, club foot, mental retardation and cryptorchidism Chromosomal analysis on the basis of G-banding technique was performed following patient referral to the cytogenetic laboratory Chromosomal investigation appeared as 46, XY, r(18) (p1132 q2132) According to the clinical features of such patients, chromosome investigation is strongly recommended
10 citations
TL;DR: A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques.
Abstract: A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.
10 citations
10 citations
TL;DR: The present patient is the first example of male infertility associated with this cytogenetic anomaly, and is likely that infertility arose from a mechanical block of meiosis, resulting from pairing failure of chromosomes 22, similarly to azoospermia occurring in few known males with r(21) chromosomes.
10 citations
TL;DR: A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q-syndrome and Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin.
Abstract: A ring chromosome No 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q-syndrome Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin Detailed study of the quinacrine banding pattern of the ring indicated loss of the most distal band of the long arm (13q34) and possible partial loss of the next adjacent long arm band (13q33) The short arm (13q11) was present but the stalk (13p12) and satellite (13p13) regions appeared to be missing
10 citations