Literature DB >> 1084120

[Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case].

C Turleau, A Rossier, G de Montis, M Roubin, F Chavin-Colin, J de Grouchy.   

Abstract

Partial trisomy 7qter due to malsegregation of a familial balanced translocation t(7;8)(q33;p113) is reported in a 2-year-old boy with the following features: psychomotor retardation (IQ = 46); hypotonia; normal; facial asymetry with palpebral fissures slanted downwards and outwards, deeply set eyes, and divergent strabismus.

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Year:  1976        PMID： 1084120

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


  8 in total

Review 1.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q.

Authors:  A Schinzel; O Tönz
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

3.  The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31).

Authors:  G Simoni; L Dalprà; G L Terzoli; F Rossella; M G Tibiletti
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  De novo duplication of the 7q11 leads to q22 region.

Authors:  N B Kardon; L Pollack; J Davis; A Broekman; M Krauss
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

5.  Partial trisomy for the long arm of chromosome 7. Case report and review.

Authors:  M A Novales; C Fernandez-Novoa; A Hevia; V San Martin; H Galera
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation.

Authors:  M Schmid; J Wolf; H Nestler; W Krone
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

7.  Partial trisomy 7 (q32----qter) syndrome in two children.

Authors:  D A Couzin; N Haites; J L Watt; A W Johnston
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

8.  Full trisomy 7 and Potter syndrome.

Authors:  E Yunis; E Ramírez; J G Uribe
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  8 in total

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