Literature DB >> 2373110

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

A Hamers1, P Jongbloet, G Peeters, J P Fryns, J Geraedts.   

Abstract

We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.

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Year:  1990        PMID： 2373110     DOI： 10.1007/bf02034746

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  18 in total

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2.  Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

Authors:  A Giedion; M Burdea; Z Fruchter; T Meloni; V Trosc
Journal:  Helv Paediatr Acta       Date:  1973-07

3.  8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.

Authors:  J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

4.  Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).

Authors:  R A Pfeiffer
Journal:  Clin Genet       Date:  1980-08       Impact factor: 4.438

5.  Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.

Authors:  J P Fryns; G Heremans; J Marien; H Van den Berghe
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Mid-prophase human chromosomes. The attainment of 2000 bands.

Authors:  J J Yunis
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  [Tricho-rhino-phalangeal syndrome].

Authors:  A Giedion
Journal:  Helv Paediatr Acta       Date:  1966-11

8.  Tricho-rhino-phalangeal syndrome type II. The Langer-Giedion syndrome.

Authors:  S Murachi; H Itoh; Y Sugiura
Journal:  Jinrui Idengaku Zasshi       Date:  1979-03

9.  Chromosome deletion and multiple cartilaginous exostoses.

Authors:  E M Bühler; U K Bühler; G R Stalder; L Jani; L P Jurik
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

10.  The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

Authors:  E M Bühler; N J Malik
Journal:  Am J Med Genet       Date:  1984-09
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  8 in total

1.  Hereditary multiple exostoses.

Authors:  R C Hennekam
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

3.  Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

Authors:  Dezső David; Bárbara Marques; Cristina Ferreira; Carlos Araújo; Luís Vieira; Gabriela Soares; Cristina Dias; Maximina Pinto
Journal:  Hum Genet       Date:  2013-07-09       Impact factor: 4.132

4.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Authors:  H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; K Devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; R C Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  2000-12-07       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.  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

7.  Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

Authors:  Weijuan Su; Xiulin Shi; Mingzhu Lin; Caoxin Huang; Liying Wang; Haiqu Song; Yanzhen Zhuang; Haifang Zhang; Nanzhu Li; Xuejun Li
Journal:  BMC Med Genet       Date:  2018-12-12       Impact factor: 2.103

8.  New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Authors:  Milena Crippa; Ilaria Bestetti; Mario Perotti; Chiara Castronovo; Silvia Tabano; Chiara Picinelli; Guido Grassi; Lidia Larizza; Angela Ida Pincelli; Palma Finelli
Journal:  BMC Med Genet       Date:  2014-05-02       Impact factor: 2.103
  8 in total

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