Literature DB >> 3812600

Menkes syndrome in a girl with X-autosome translocation.

S Kapur, J V Higgins, K Delp, B Rogers.   

Abstract

We report on a girl with Menkes syndrome (M.S.) and X-2 reciprocal translocation. We conclude that the probable locus for M.S. gene is at band Xq13. This case and other previous case reports of X-linked disorders in females suggest that chromosome analysis is indicated in all females who present with manifestations of a known X-linked lethal condition in order to detect a possible associated balanced X-autosome translocation.

Entities:  

Mesh：

Year:  1987        PMID： 3812600     DOI： 10.1002/ajmg.1320260230

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  23 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

Authors:  V Verga; B K Hall; S R Wang; S Johnson; J V Higgins; T W Glover
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Authors:  S L Dagenais; A N Adam; J W Innis; T W Glover
Journal:  Am J Hum Genet       Date:  2001-06-26       Impact factor: 11.025

Review 4.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

5.  Multipoint linkage analysis in Menkes disease.

Authors:  T Tønnesen; A Petterson; T A Kruse; A M Gerdes; N Horn
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

6.  Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Authors:  Z Tümer; C Lund; J Tolshave; B Vural; T Tønnesen; N Horn
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

Review 7.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 8.  Menkes disease: underlying genetic defect and new diagnostic possibilities.

Authors:  Z Tümer; N Horn
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

9.  Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Authors:  M Chery; V Biancalana; C Philippe; G Malpuech; H Carla; S Gilgenkrantz; J L Mandel; A Hanauer
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

10.  A comparison of the mutation spectra of Menkes disease and Wilson disease.

Authors:  Gloria Hsi; Diane W Cox
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132
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