J Genet Med.  2013 Dec;10(2):117-119. 10.5734/JGM.2013.10.2.117.

A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8

• Lee JH
• Kim HS
• Ha JS

• KMID: 1811008
• DOI: http://doi.org/10.5734/JGM.2013.10.2.117

Abstract

Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with several skeletal anomalies. She exhibited distinct phenotypic features such as tall stature, deviation of the left middle finger, webbing of both thumbs and flexion deformities of the both third and fifth distal intermediate phalanges. A mild impulse-control disorder was observed, without mental retardation. Chromosomal and fluorescence in situ hybridization analysis demonstrated double trisomy mosaicism both on lymphocytes and buccal epithelial cells.

Keyword

Double trisomy mosaicism; Trisomy 8; Trisomy X

MeSH Terms

Cell Line
Child
Congenital Abnormalities
Epithelial Cells
Female
Fingers
Fluorescence
Humans
In Situ Hybridization
Intellectual Disability
Lymphocytes
Mosaicism*
Thumb
Trisomy*