Literature DB >> 7629445

An infant with Down-Turner double aneuploidy: a case report and literature review.

S Jaruratanasirikul1, U Jinorose.   

Abstract

The case of an 8 month-old female infant with non-mosaic Down-Turner double aneuploidy is reported. She had Down facies without stigmata of Turner syndrome. A review of 22 previous reported cases revealed mosaicism in all cases, either 21 mosaic or X mosaic. Our patients is the first reported case of non-mosaic trisomy 21-monosomy X polysyndrome in Thailand.

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Year:  1995        PMID: 7629445

Source DB:  PubMed          Journal:  J Med Assoc Thai        ISSN: 0125-2208


  3 in total

1.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

2.  Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples.

Authors:  Tracy Futch; John Spinosa; Sucheta Bhatt; Eileen de Feo; Richard P Rava; Amy J Sehnert
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

3.  Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

Authors:  Gioconda Manassero-Morales; Denisse Alvarez-Manassero; Alfredo Merino-Luna
Journal:  Case Rep Pediatr       Date:  2016-09-08
  3 in total

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