Literature DB >> 6334482

Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.

L Bjerglund Nielsen, I M Nielsen.   

Abstract

A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.

Entities:  

Mesh：

Year:  1984        PMID： 6334482

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  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.  Short stature: a common feature in Duchenne muscular dystrophy.

Authors:  U Eiholzer; E Boltshauser; D Frey; L Molinari; M Zachmann
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

3.  Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Authors:  S E Bodrug; J R Roberson; L Weiss; P N Ray; R G Worton; D L Van Dyke
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

4.  Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors:  S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  High-resolution banding study of an X/4 translocation in a female with Duchenne muscular dystrophy.

Authors:  F Saito; A Tonomura; S Kimura; N Misugi; H Sugita
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Authors:  M Bugge; G Bruun-Petersen; K Brøndum-Nielsen; U Friedrich; J Hansen; G Jensen; P K Jensen; U Kristoffersson; C Lundsteen; E Niebuhr; K R Rasmussen; K Rasmussen; N Tommerup
Journal:  J Med Genet       Date:  2000-11       Impact factor: 6.318

7.  Muscular dystrophy in girls with X;autosome translocations.

Authors:  Y Boyd; V Buckle; S Holt; E Munro; D Hunter; I Craig
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

8.  Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Authors:  J P Giacalone; U Francke
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

9.  Duchenne muscular dystrophy in a female with a translocation involving Xp21.

Authors:  N C Nevin; A E Hughes; M Calwell; J H Lim
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

10.  De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.

Authors:  J Chelly; F Marlhens; B Le Marec; M Jeanpierre; M Lambert; G Hamard; B Dutrillaux; J C Kaplan
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132
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