Literature DB >> 953212

Deletion of 11q: report of two cases and a review.

S A Larson, G W Yeatman, V M Riccardi.   

Abstract

A terminal deletion of the long arm of chromosome 11 is compatible with life, and the affected child uniformly shows growth and mental retardation and telecanthus. However, no clear-cut, distinctive clinical syndrome is apparent. Mental and growth retardation alone may be the sole indications for chromosome analysis, as the virtual absence of dysmorphic features in some cases (Case 2) is noteworthy. Other appropriate family members should be evaluated to determine whether there is a familial balanced reciprocal translocation present and proper genetic counseling provided.

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Year:  1976        PMID: 953212

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  5 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.  The 11q -- syndrome.

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

5.  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

  5 in total

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