Literature DB >> 411817

Indications for chromosome analysis illustrated by a case of ring 22.

P N Howard-Peebles.   

Abstract

A child with multiple anomalies and a suggested diagnosis of Hurler's syndrome was studied. Routine chromosome analysis revealed a ring 22. This case illustrates the importance of chromosome analysis in the evaluation of individuals with developmental problems.

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Year:  1977        PMID： 411817     DOI： 10.1093/oxfordjournals.jhered.a108832

Source DB:  PubMed          Journal:  J Hered        ISSN： 0022-1503            Impact factor:   2.645


  2 in total

1.  The ring chromosome 13 syndrome.

Authors:  N J Martin; P J Harvey; J H Pearn
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

2.  An r(22)(p11 leads to q13) in a moderately mentally retarded girl.

Authors:  V Aller; J A Abrisqueta; M L de Torres; M A Martín-Lucas; A Pérez-Castillo; J Del Mazo
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132
  2 in total

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