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Literature DB >> 7253003

Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

Abstract

A case of trisomy 14q mosaicism is described and compared with three other similar reported cases. The clinical picture is characterised by severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears. The present chromosome imbalance probably resulted from dissociation of a balanced 14q15q translocation with subsequent formation of a 14q isochromosome.

Entities: Disease

Mesh：

Year: 1981 PMID： 7253003 PMCID： PMC1048663 DOI： 10.1136/jmg.18.1.68

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

19 in total

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

Authors: T C Hsu; S Pathak; T R Chen
Journal: Cytogenet Cell Genet Date: 1975

2. Structure and inheritance of some heterozygous Robertsonian translocation in man.

Authors: A Daniel; P R Lam-Po-Tang
Journal: J Med Genet Date: 1976-10 Impact factor: 6.318

3. Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Authors: J P Fryns; M Van Eygen; W Tanghe; H Van Den Berghe
Journal: Hum Genet Date: 1977-06-10 Impact factor: 4.132

Review 4. Chromosome abnormalities and abortion.

Authors: A Boué; J Boué
Journal: Basic Life Sci Date: 1974

5. Dicentric and monocentric Robertsonian translocations in man.

Authors: E Niebuhr
Journal: Humangenetik Date: 1972

6. A cytogenetic survey of 11,680 newborn infants.

Authors: P A Jacobs; M Melville; S Ratcliffe; A J Keay; J Syme
Journal: Ann Hum Genet Date: 1974-05 Impact factor: 1.670

7. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

Authors: L Atkins; C S Bartsocas
Journal: J Med Genet Date: 1974-09 Impact factor: 6.318

3. Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.

Authors: S L Page; L G Shaffer
Journal: Chromosome Res Date: 1998-02 Impact factor: 5.239

4. A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

Authors: B Dallapiccola; G Ferranti; A Giannotti; G Novelli; L Pasquini; B Porfirio
Journal: J Med Genet Date: 1984-12 Impact factor: 6.318

4 in total

Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

Review 1. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.

2. Structure and inheritance of some heterozygous Robertsonian translocation in man.

3. Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Review 4. Chromosome abnormalities and abortion.

5. Dicentric and monocentric Robertsonian translocations in man.

6. A cytogenetic survey of 11,680 newborn infants.

7. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

8. [Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)].

9. Three dicentric Y chromosomes.

10. [Mosaic 14 trisomy in a female child with multiple abnormalities].

1. Trisomy 14 mosaicism in a 2 year old girl.

2. Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?

3. Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.

4. A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.