Literature DB >> 1247044

Chromosome 11 long arm partial deletion: a new syndrome.

E Engel, C S Hirshberg, S B Cassidy, B J McGee.   

Abstract

Deletion of the distal end of the long arm of a chromosome 11 (11q-) was demonstrated by G-bands in a malformed 4.3-year-old girl. Comparison of her phenotype with those of the four previously reported cases of 11q-, three with a proven and one a presumed similar deletion, suggests that this defect results in a clinical picture most noticeable for the association of variable mental retardation, marked speech deficit, trigonocephaly, and pronounced growth failure.

Entities:  

Mesh:

Year:  1976        PMID: 1247044

Source DB:  PubMed          Journal:  Am J Ment Defic        ISSN: 0002-9351


  8 in total

1.  The 11q-- syndrome: another case report.

Authors:  M T Mulcahy; J Jenkyn
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

2.  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

Review 3.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

4.  The 11q -- syndrome.

Authors:  J Frank; V M Riccardi
Journal:  Hum Genet       Date:  1977-02-11       Impact factor: 4.132

5.  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

6.  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

7.  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

8.  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

  8 in total

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