Literature DB >> 1083197

[Partial 11q monosomy and trigonocephaly. A new syndrome].

C Turleau, F Chavin-Colin, M Roubin, D Thomas, T J de Grouchy.   

Abstract

Partial monosomy 11q occurring de novo and concerning the 11q231 leads to qter region, is reported in a 2-month-old boy. This observation together with three others from the literature allows the individualization of a syndrome characterized by: severe growth retardation: more or less pronounced mental retardation; trigonocephaly; facial dysmorphia.

Entities:  

Mesh：

Year:  1975        PMID： 1083197

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


  6 in total

1.  Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1986 Jan-Feb       Impact factor: 1.967

2.  Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23.

Authors:  L E Voullaire; G C Webb; M A Leversha
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

3.  Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1984 May-Jun       Impact factor: 1.967

4.  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.  Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Authors:  A Schinzel; P Auf der Maur; H Moser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

6.  A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.

Authors:  B Zabel; S Hansen; U Hilig; H Gröting-Imhof
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132
  6 in total

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