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Literature DB >> 513087

A case of partial trisomy 17 resulting from X-autosomal translocation.

Abstract

A case of partial trisomy 17 with partial monosomy X resulting from a maternal X-autosomal translocation t(X;17)(q13;q21) is presented. Three previously reported cases are reviewed and the phenotypic features of trisomy 17 are discussed.

Mesh：

Year: 1979 PMID： 513087 PMCID： PMC1012618 DOI： 10.1136/jmg.16.5.395

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

5 in total

1. An extra small metacentric chromosome identified as a deleted chromosome no. 17.

Authors: W Palutke; H Chen; P Woolley; C Espiritu; H L Vogel; N Gohle; M Tyrkus
Journal: Clin Genet Date: 1976-05 Impact factor: 4.438

2. Trisomy of the short arm of chromosome 17.

Authors: E Latta; J J Hoo
Journal: Humangenetik Date: 1974

3. Trisomy 17 in two abortuses.

Authors: K Ohama; I Kusumi; T Ihara
Journal: Jinrui Idengaku Zasshi Date: 1977-03

4. [The mechanism of chromosome segmentation induced by BUDR (5-bromodeoxyuridine)].

Authors: B Dutrillaux; A M Fosse
Journal: Ann Genet Date: 1974-09

5. Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.

Authors: F Salamanca-Gómez; S Armendares
Journal: Ann Genet Date: 1975-12

5 in total

11 in total

Review 1. The critical region on the human Xq.

Authors: E Therman; R Laxova; B Susman
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

2. Mosaic partial trisomy 17q2.

Authors: P A King; A Ghosh; M Tang
Journal: J Med Genet Date: 1991-09 Impact factor: 6.318

3. A familial X-autosome translocation with the breakpoint in the "critical region".

Authors: U Diedrich; I Hansmann
Journal: Hum Genet Date: 1985 Impact factor: 4.132

4. De novo tandem duplication 17p11 leads to cen.

Authors: Z Docherty; M A Hultén; M M Honeyman
Journal: J Med Genet Date: 1983-04 Impact factor: 6.318

5. X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.

Authors: K Madan; P G Hompes; J Schoemaker; C E Ford
Journal: Hum Genet Date: 1981 Impact factor: 4.132

6. Structural anomalies of the X chromosome and inactivation center.

Authors: M G Mattei; J F Mattei; I Vidal; F Giraud
Journal: Hum Genet Date: 1981 Impact factor: 4.132

7. A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

Authors: K S Reddy; M B Larsen
Journal: J Med Genet Date: 1998-02 Impact factor: 6.318

8. X-autosome translocations: cytogenetic characteristics and their consequences.

Authors: M G Mattei; J F Mattei; S Ayme; F Giraud
Journal: Hum Genet Date: 1982 Impact factor: 4.132

Review 9. Balanced structural changes involving the human X: effect on sexual phenotype.

Authors: K Madan
Journal: Hum Genet Date: 1983 Impact factor: 4.132

Review 10. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors: T Ogata; N Matsuo
Journal: Hum Genet Date: 1995-06 Impact factor: 4.132