Open AccessJournal Article
Human ring chromosomes: a report of five cases.
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This article is published in Annales De Genetique.The article was published on 1972-12-01 and is currently open access. It has received 15 citations till now. The article focuses on the topics: Karyotype & Ring chromosome.read more
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Journal ArticleDOI
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
Kouji Narahara,Kiyoshi Kikkawa,Masae Murakami,Kei Hiramoto,Hiroshi Namba,Kazushiro Tsuji,Yuji Yokoyama,Hiroshi Kimoto +7 more
TL;DR: Karyotype-phenotype comparisons in the present cases and 16 previously reported cases with deficiency of the distal portion of 3p suggests that deficiency ofThe 3p25.3 band is critical to produce the main clinical manifestations of the del(3p) syndrome.
Journal ArticleDOI
Phenotypic correlations in patients with ring chromosome 22.
TL;DR: This paper reports two patients with a ring 22 chromosome which has been confirmed by Q‐banding, and the importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.
Journal ArticleDOI
Mental retardation and Ullrich‐Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X‐inactivation center hypothesis
Heath Cole,Bing Huang,Bonnie Anne Salbert,Judith A. Brown,Patricia N. Howard-Peebles,Patricia N. Howard-Peebles,Susan H. Black,Susan H. Black,Andrew Dorfmann,Oscar R. Febles,Cathy A. Stevens,Colleen Jackson-Cook +11 more
TL;DR: The 4 cases ascertained provide further support for the hypothesis that a lack of inactivation of a small mar/r(X) chromosome may be a factor leading to the MR and other phenotypic abnormalities seen in this subset of individuals having atypical UTS.
Journal ArticleDOI
Turner syndrome patients with a ring X chromosome
TL;DR: A patient with clinical features of Turner syndrome and a 45, X karyotype in repeated blood cultures was re‐evaluated when she spontaneously entered puberty and a ring X cell line was found in a small proportion of fibroblasts.
Journal ArticleDOI
The malformations of the urinary system in autosomal disorders.
TL;DR: The authors recognize specific and nonspecific abnormalities of the urinary system that are observed in children with chromosomal diseases, except infantile polycystic kidney and medullary “sponge” kidney.