Literature DB >> 2816999

Antenatal diagnosis of 45,X/48,XYYY.

C R Bryke1, M J Mahoney, T L Yang-Feng.   

Abstract

A diagnosis of 45,X/48,XYYY was made antenatally. Counseling this case was hampered by the paucity of literature describing the phenotype of patients with this chromosome constitution. The fetus had ambiguous external genitalia, a horseshoe kidney, a cerebral cortical cyst and arachnodactyly.

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Year:  1989        PMID: 2816999     DOI: 10.1002/ajmg.1320340215

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


  2 in total

1.  48,XYYY: A Rare Case Report.

Authors:  A S Sabnis; D Bhusare
Journal:  Balkan J Med Genet       Date:  2022-06-05       Impact factor: 0.810

2.  Rare 48, XYYY syndrome: case report and review of the literature.

Authors:  Maryam Abedi; Arash Salmaninejad; Ebrahim Sakhinia
Journal:  Clin Case Rep       Date:  2017-12-07
  2 in total

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