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: The case of the child with ring chromosome 4 is presented and the phenotype of the patient does not show features of Wolf syndrome (4p-).
Abstract: The case of the child with ring chromosome 4 is presented. The phenotype of the patient does not show features of Wolf syndrome (4p-).
9 citations
TL;DR: The ocular and systemic abnormalities in a boy with ring chromosome 11 (p 15.5 → q25) are described, which consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wolfflin nodes, and cartwheel configuration of the anterior iris leaf.
Abstract: The ocular and systemic abnormalities in a boy with ring chromosome 11 [46, XY/46, XY, r(11) (p 15.5 → q25] are described. The ocular anomalies consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wolfflin nodes, and cartwheel configuration of the anterior iris leaf. The systemic changes consisted of skeletal, muscular and articular defects, obesity, cryptorchidism, and mild mental retardation.
9 citations
TL;DR: The age-associated differences in the origin of the COL1A1-PDGFB fusion are confirmed and could show that it in most cases must arise after DNA synthesis, i.e., in the S or G2 phase of the cell cycle.
9 citations
TL;DR: A case of an African-American female with hyperthyroidism, type 1 diabetes mellitus, vitiligo and IgA deficiency associated with a r(18) chromosome complement is reported, which suggests that a gene or genes on chromosome 18 might play a role in the autoimmune process.
Abstract: Phenotypic and clinical features of individuals with ring chromosome 18 [r(18)] vary with the extent of deletion of the short (18p-) or long arm (18q-). Most patients with r(18), therefore, demonstrate a clinical spectrum of both 18p- and 18q- deletions. Short stature, microcephaly, mental and motor retardation, craniofacial dysmorphism and extremity abnormalities are the most commonly reported features in patients with r(18). Abnormalities of chromosome 18, especially 18p- syndrome, are often reported with autoimmune thyroid disease and growth hormone deficiency, but reports of endocrine abnormalities associated with r(18) are rare. Here, we report a case of an African-American female with hyperthyroidism, type 1 diabetes mellitus, vitiligo and IgA deficiency associated with a r(18) chromosome complement. This patient additionally had mild intellectual disability and dysmorphic features. Karyotype analysis showed a de novo ring chromosome 18 (deletion 18q23-18qter and deletion 18p11.3-18pter). Although this unique association of autoimmune polyglandular endocrinopathy with ring chromosome 18 could be coincidental, we speculate that a gene or genes on chromosome 18 might play a role in the autoimmune process.
8 citations
TL;DR: This is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA and he recovered from heart failure symptoms after ligation of the PDA, and showed infantile failure to thrive and delayed milestone in a follow-up evaluation.
Abstract: The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
8 citations