Literature DB >> 2784939

Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.

Y Yamamoto1, N Oguro, M Miyao, M Yanagisawa.   

Abstract

Here we report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter----q23.3::q24.13----qter)]. He had the facial features of the tricho-rhino-phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.

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Year:  1989        PMID： 2784939     DOI： 10.1002/ajmg.1320320128

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


  8 in total

1.  A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

Authors:  T Sasaki; H Tonoki; H Soejima; N Niikawa
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Authors:  Andrew Dauber; Christelle Golzio; Cécile Guenot; Francine M Jodelka; Maria Kibaek; Susanne Kjaergaard; Bruno Leheup; Danielle Martinet; Malgorzata J M Nowaczyk; Jill A Rosenfeld; Susan Zeesman; Janice Zunich; Jacques S Beckmann; Joel N Hirschhorn; Michelle L Hastings; Sebastien Jacquemont; Nicholas Katsanis
Journal:  Am J Hum Genet       Date:  2013-10-17       Impact factor: 11.025

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

Authors:  J T Hecht; D Hogue; L C Strong; M F Hansen; S H Blanton; M Wagner
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

5.  The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Authors:  M Le Merrer; K Ben Othmane; V Stanescu; S Lyonnet; L Van Maldergem; G Royer; A Munnich; P Maroteaux
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

Authors:  A Hamers; P Jongbloet; G Peeters; J P Fryns; J Geraedts
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

7.  Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

Authors:  H J Lüdecke; C Johnson; M J Wagner; D E Wells; C Turleau; N Tommerup; A Latos-Bielenska; K R Sandig; P Meinecke; B Zabel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

8.  Trichorhinophalangeal syndrome type 1: A case report with literature review.

Authors:  Ramesh Candamourty; Suresh Venkatachalam; B Karthikeyan; M R Ramesh Babu
Journal:  J Nat Sci Biol Med       Date:  2012-07
  8 in total

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