Literature DB >> 1080982

[Trisomy 11q. Individualization of a new syndrome].

A Aurias, C Laurent.   

Abstract

The comparison of nine examples of trisomy for the distal segment of 11q permits definition of a clinical syndrome which includes the following: axial hypotonia with hypertonia of the limbs; an old-looking wrinkled face; a large beaked nose; microretrognathia with malformation of the palate; low-set ears; a prominent anterior helix; a prominent anthelix; a short neck; a narrow chest with nipples set widely apart; micropenis in the boys; congenital heart disease; renal agenesis or malformations of the urinary tract; agenesis of the thoracic girdle; dysplasia of the acetabulum; clubfeet.

Entities:  

Mesh:

Year:  1975        PMID: 1080982

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


  5 in total

1.  47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.

Authors:  E Kessel; R A Pfeiffer
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

2.  Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

Authors:  H Nakai; Y Yamamoto; Y Kuroki
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

3.  The 11q;22q translocation: a European collaborative analysis of 43 cases.

Authors:  M Fraccaro; J Lindsten; C E Ford; L Iselius
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 4.  Human chromosome 22.

Authors:  J C Kaplan; A Aurias; C Julier; M Prieur; M F Szajnert
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

5.  11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation.

Authors:  M A Ridler; J A McKeown
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

  5 in total

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