Literature DB >> 8592336

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

M Masuno1, K Imaizumi, G Nishimura, M Nakamura, I Saito, K Akagi, Y Kuroki.   

Abstract

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for Shwachman syndrome.

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Year:  1995        PMID： 8592336      PMCID： PMC1051744          DOI： 10.1136/jmg.32.11.894

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


  14 in total

1.  A mentally retarded child with a translocation involving chromosomes 12 and 19.

Authors:  T W Histinx; F J Gabreëls; F J Rutten; I I Korten; J M Scheres; E M Joosten
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318

2.  THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

Authors:  H SHWACHMAN; L K DIAMOND; F A OSKI; K T KHAW
Journal:  J Pediatr       Date:  1964-11       Impact factor: 4.406

3.  Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

Authors:  C P Koiffmann; C H Gonzalez; D H Souza; E G Romani; C A Kim; A Wajntal
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

4.  Cloning of cDNAs for Fanconi's anaemia by functional complementation.

Authors:  C A Strathdee; H Gavish; W R Shannon; M Buchwald
Journal:  Nature       Date:  1992-04-30       Impact factor: 49.962

5.  A case of Shwachman syndrome with increased spontaneous chromosome breakage.

Authors:  H Tada; T Ri; H Yoshida; K Ishimoto; M Kaneko; Y Yamashiro; T Shinohara
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

6.  Biallelic DNA polymorphism of an alpha-tubulin gene family member on chromosome 12 [TUBA/MspI/2.2;2.0 kb].

Authors:  R A Gatti; R Shaked; S Wei; T K Mohandas; W Salser
Journal:  Nucleic Acids Res       Date:  1987-10-12       Impact factor: 16.971

7.  Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.

Authors:  P Meinecke; R Meinecke
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

8.  Psychological characteristics of children with Shwachman syndrome.

Authors:  A Kent; G H Murphy; P Milla
Journal:  Arch Dis Child       Date:  1990-12       Impact factor: 3.791

9.  Shwachman's syndrome. A review of 21 cases.

Authors:  P J Aggett; N P Cavanagh; D J Matthew; J R Pincott; J Sutcliffe; J T Harries
Journal:  Arch Dis Child       Date:  1980-05       Impact factor: 3.791

10.  Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

Authors:  R Coco; V B Penchaszadeh
Journal:  Am J Med Genet       Date:  1982-06
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  3 in total

1.  Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Authors:  S Goobie; M Popovic; J Morrison; L Ellis; H Ginzberg; G R Boocock; N Ehtesham; C Bétard; C G Brewer; N M Roslin; T J Hudson; K Morgan; T M Fujiwara; P R Durie; J M Rommens
Journal:  Am J Hum Genet       Date:  2001-03-15       Impact factor: 11.025

2.  Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.

Authors:  H Ginzberg; J Shin; L Ellis; S Goobie; J Morrison; M Corey; P R Durie; J M Rommens
Journal:  Am J Hum Genet       Date:  2000-03-14       Impact factor: 11.025

3.  Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Authors:  Eiji Nakashima; Akihiko Mabuchi; Yoshio Makita; Mitsuo Masuno; Hirofumi Ohashi; Gen Nishimura; Shiro Ikegawa
Journal:  Hum Genet       Date:  2004-01-29       Impact factor: 4.132
  3 in total

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