Literature DB >> 10377019

Rare sex chromosome aneuploidies in humans: report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes.

M Cammarata, P Di Simone, L Graziano, M Giuffrè, G Corsello, G Garofalo.   

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Year:  1999        PMID： 10377019     DOI： 10.1002/(sici)1096-8628(19990702)85:1<86::aid-ajmg16>3.0.co;2-m

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


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  5 in total

1.  High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.

Authors:  Daniel A Peiffer; Jennie M Le; Frank J Steemers; Weihua Chang; Tony Jenniges; Francisco Garcia; Kirt Haden; Jiangzhen Li; Chad A Shaw; John Belmont; Sau Wai Cheung; Richard M Shen; David L Barker; Kevin L Gunderson
Journal:  Genome Res       Date:  2006-08-09       Impact factor: 9.043

2.  A rare sex chromosome aneuploidy: 48,XXYY syndrome.

Authors:  Tahir Atik; Özgür Çoğulu; Ferda Özkınay
Journal:  Turk Pediatri Ars       Date:  2016-06-01

3.  Brain magnetic resonance imaging findings in 49,XXXXY syndrome.

Authors:  Trevor L Hoffman; Arastoo Vossough; Can Ficicioglu; Jeannie Visootsak
Journal:  Pediatr Neurol       Date:  2008-06       Impact factor: 3.372

4.  48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report.

Authors:  Mohammad Marwan Alhalabi; Marwan Alhalabi
Journal:  J Med Case Rep       Date:  2020-05-11

5.  Aspects of coverage in medical DNA sequencing.

Authors:  Michael C Wendl; Richard K Wilson
Journal:  BMC Bioinformatics       Date:  2008-05-16       Impact factor: 3.169
  5 in total

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