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Trisomy 9 syndrome in a neonate with unusual features
Egyptian Journal of Medical Human Genetics [The]. 2009; 10 (2): 238-242
em Inglês | IMEMR | ID: emr-97446
ABSTRACT
To report a newborn infant with multiple congenital anomalies and apparent complete trisomy 9 in the blood. Review will be included. Clinical examination, TORCH screening, echocardiography, skeletal survey, ultrasound head and abdomen were done. In addition chromosomal analysis of a peripheral blood sample using GTG, CBG banding and FISH techniques were employed. Multiple congenital anomalies including craniofacial features, central nervous, cardiovascular, skeletal, gastric and urogenital systems because of chromosomal abnormality which indicated 47, XY, inv [9] [p12; q13]+inv [9] [p12; q13] mat. Our case could be a new case of apparently complete trisomy 9 syndrome with unusual

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Recém-Nascido / Aberrações Cromossômicas / Hibridização in Situ Fluorescente / Cariotipagem Tipo de estudo: Relato de Casos Limite: Humanos Idioma: Inglês Revista: Egypt. J. Med. Hum. Genet. Ano de publicação: 2009

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Recém-Nascido / Aberrações Cromossômicas / Hibridização in Situ Fluorescente / Cariotipagem Tipo de estudo: Relato de Casos Limite: Humanos Idioma: Inglês Revista: Egypt. J. Med. Hum. Genet. Ano de publicação: 2009