Literature DB >> 238457

Partial 4q trisomy. Apropos of 3 cases.

B Dutrillaux, C Laurent, A Forabosco, B Noel, E Suerinc, M C Biemont, J B Cotton.   

Abstract

Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.

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Year:  1975        PMID: 238457

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


  19 in total

1.  Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Authors:  Lucie Tosca; Sophie Brisset; François M Petit; Laure Lecerf; Ghislaine Rousseau; Cécile Bas; Mireille Laroudie; Marie-Laure Maurin; Sylvie Tapia; Olivier Picone; Sophie Prevot; Michel Goossens; Philippe Labrune; Gérard Tachdjian
Journal:  Eur J Hum Genet       Date:  2010-04-28       Impact factor: 4.246

2.  [Trisomy 4p. Three new observations (author's transl)].

Authors:  F Giraud; J F Mattei; M G Mattei; S Ayme; R Bernard
Journal:  Humangenetik       Date:  1975-11-06

3.  Partial trisomy 4q syndrome: case report and review.

Authors:  J Cervenka; G R Djavadi; R J Gorlin
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

Review 4.  Genetics of the +p9 syndrome.

Authors:  I W Lurie; G I Lazjuk; D B Gurevich; S S Usoev
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

5.  Partial trisomy 4q due to familial 2/4 translocation.

Authors:  B Biederman; P Bowen
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

6.  A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.

Authors:  Pavlos Fanis; Elisavet Efstathiou; Vassos Neocleous; Leonidas A Phylactou; Adamos Hadjipanayis
Journal:  J Genet       Date:  2019-03       Impact factor: 1.166

7.  Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23).

Authors:  M Stella; A Bonfante; G Ronconi; G Rossi
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

Review 8.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

9.  Tandem duplication (5q13 to 22) in a mentally deficient girl.

Authors:  E Kessel; R A Pfeiffer
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

10.  Systematic analysis of 95 reciprocal translocations of autosomes.

Authors:  A Aurias; M Prieur; B Dutrillaux; J Lejeune
Journal:  Hum Genet       Date:  1978-12-29       Impact factor: 4.132

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