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Literature DB >> 6716418

Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.

E A Wulfsberg, R S Sparkes, I J Klisak, A Teng.

Abstract

We report a female patient with a typical trisomy 18 phenotype who has a 46,XX, -18, +isopseudodic(18)(p11) karotype. The lack of features of the 18p- syndrome suggests that a significant amount of short arm material is present and that the Turner-like features associated with 18p- may be determined by monosomy for 18p11. The phenotype-genotype correlations in abnormalities affecting chromosome 18 are reviewed.

Entities: Disease Gene Species

Mesh：

Year: 1984 PMID： 6716418 PMCID： PMC1049249 DOI： 10.1136/jmg.21.2.151

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

5 in total

1. Origin of a small metacentric chromosome: familial and cytogenic evidence.

Authors: K M Taylor; H L Wolfinger; M G Brown; D L Chadwick
Journal: Clin Genet Date: 1975-11 Impact factor: 4.438

2. Chromosome 18 abnormalities in a family with a translocation t(18p--, 21p+).

Authors: P Jacobsen; M Mikkelsen
Journal: J Ment Defic Res Date: 1968-06

3. Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin.

Authors: K Madan; L Vlasveld; P G Barth
Journal: Ann Genet Date: 1981

4. Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).

Authors: H N Bass; R S Sparkes; A A Miller
Journal: Clin Genet Date: 1979-09 Impact factor: 4.438

5. Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Authors: K B Nielsen; H Dyggve; U Friedrich; N Hobolth; T Lyngbye; M Mikkelsen
Journal: Hum Genet Date: 1978-10-19 Impact factor: 4.132

5 in total

3 in total

Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.

1. Origin of a small metacentric chromosome: familial and cytogenic evidence.

2. Chromosome 18 abnormalities in a family with a translocation t(18p--, 21p+).

3. Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin.

4. Features of trisomy 18 and 18p- syndromes in an infant with 45,XY,i(18q).

5. Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

1. Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

2. Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18.

3. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.