Literature DB >> 3970074

Duplication 5q(5q22----5q33): from an intrachromosomal insertion.

N J Martin, D W Cartwright, P J Harvey.   

Abstract

We report on an infant with an as yet undescribed partial duplication 5q(q22----5q33). He had a number of the already recorded manifestations of partial trisomy 5q, namely microcephaly, growth retardation, brachydactyly, long flat philtrum, thin upper lip vermilion and downturned angles of mouth and apparently low set ears. He survived only 6 months. He inherited his duplication from a maternal intrachromosomal insertion; thus he represents a pure dup(5)(q22----5q33).

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Year:  1985        PMID： 3970074     DOI： 10.1002/ajmg.1320200109

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

Review 1.  Intrachromosomal insertions: a case report and a review.

Authors:  K Madan; F H Menko
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

2.  Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.

Authors:  D R Romain; H Cairney; D Stewart; L M Columbano-Green; M Garry; M I Parslow; R Parfitt; R H Smythe; C J Chapman
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

Review 3.  Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

Authors:  H A Price; S H Roberts; K M Laurence
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

4.  Clinical manifestations of trisomy 5q.

Authors:  D Kumar; P R Heath; C E Blank
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

5.  Pure partial trisomy of the short arm of chromosome 5.

Authors:  M O Rethoré; M C Blois; M Peeters; P Popowski; C Pangalos; J Lejeune
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

6.  Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

Authors:  Z Tümer; N Tommerup; T Tønnesen; J Kreuder; I W Craig; N Horn
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

Review 7.  Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.

Authors:  J C Barber; K H Ellis; L V Bowles; J D Delhanty; R F Ede; B M Male; D M Eccles
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318
  7 in total

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