An infant with Down-Turner double aneuploidy: a case report and literature review.
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.
Jaruratanasirikul
S
S
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Thailand.
Jinorose
U
U
D000782:Aneuploidy; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D014424:Turner Syndrome / Q000235:genetics*