Literature DB >> 1456295

6p23 deletion mosaicism in a woman with recurrent abortions and idiopathic hypoprolactinemia.

E D'Alessandro1, V Santiemma, M L Lo Re, C Ligas, G Del Porto.   

Abstract

A woman with a history of recurrent abortions, idiopathic hypoprolactinemia, and an apparent 6p partial deletion mosaicism is described. The breakpoint in the short arm of chromosome 6 was in the p23 region. This deletion could have been caused by a fragile site in 6p23.

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Year:  1992        PMID： 1456295     DOI： 10.1002/ajmg.1320440219

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


  4 in total

1.  Mosaicism with a normal cell line and an autosomal structural rearrangement.

Authors:  R J Gardner; H E Dockery; P H Fitzgerald; R G Parfitt; D R Romain; N Scobie; R L Shaw; P Tumewu; A J Watt
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

2.  Primary hypothyroidism-associated TSH-secreting pituitary adenoma/hyperplasia presenting as a bleeding nasal mass and extremely elevated TSH level.

Authors:  N N Ghannam; M M Hammami; Z Muttair; S M Bakheet
Journal:  J Endocrinol Invest       Date:  1999-06       Impact factor: 4.256

Review 3.  Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Authors:  Douglas B Gould; Mohamad S Jaafar; Mark K Addison; Francis Munier; Robert Ritch; Ian M MacDonald; Michael A Walter
Journal:  BMC Med Genet       Date:  2004-06-25       Impact factor: 2.103

Review 4.  Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2016-01-28       Impact factor: 2.009
  4 in total

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