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Literature DB >> 421697

18q- syndrome in mother and daughter.

J P Fryns, N Logghe, M van Eygen, H van den Berghe.

Abstract

The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or near band 18q21, in which the break is assumed to have occurred.

Entities: Gene

Mesh：

Year: 1979 PMID： 421697 DOI： 10.1007/bf00455265

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

4 in total

1. [18 q deletion in mother and daughter (author's transl)].

Authors: M Sulzer; H Zierler
Journal: Wien Klin Wochenschr Date: 1976-09-17 Impact factor: 1.704

2. [Partial deletion of the long arm of chromosome 18. Individualization of a new morbid state].

Authors: J Lejeune; R Berger; J Lafourcade; M O Réthoré
Journal: Ann Genet Date: 1966

3. Familial occurrence of 18q.

Authors: I Subrt; J Pokorný
Journal: Humangenetik Date: 1970-09-17

4. A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities.

Authors: P A Jacobs; J S Matsuura; M Mayer; I M Newlands
Journal: Clin Genet Date: 1978-01 Impact factor: 4.438

4 in total

3 in total

18q- syndrome in mother and daughter.

1. [18 q deletion in mother and daughter (author's transl)].

2. [Partial deletion of the long arm of chromosome 18. Individualization of a new morbid state].

3. Familial occurrence of 18q.

4. A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities.

1. Adults with Chromosome 18 Abnormalities.

Review 2. Molecular analysis of the 18q- syndrome--and correlation with phenotype.

3. 18q deletion syndrome - A case report.