A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8
Journal of Genetic Medicine
;
: 117-119, 2013.
Artigo
em Inglês
| WPRIM
| ID: wpr-196052
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Congênitas
/
Polegar
/
Trissomia
/
Linfócitos
/
Linhagem Celular
/
Hibridização In Situ
/
Células Epiteliais
/
Dedos
/
Fluorescência
/
Deficiência Intelectual
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2013
Tipo de documento:
Artigo
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