Diagnostic postnatal et pronostic de 2 cas de triploïdie

Autor:	H. Soua, Mohamed Tahar Sfar, H. Elghezal, Ali Saad, Y Tlili, H. Ben Hamouda, M Tfifha
Rok vydání:	2010
Předmět:	Gynecology Fetus Pediatrics medicine.medical_specialty Respiratory distress business.industry Prenatal diagnosis Karyotype medicine.disease Pediatrics Perinatology and Child Health medicine Chromosome abnormality Severe intrauterine growth retardation Gestation Syndactyly business
Zdroj:	Archives de Pédiatrie. 17:1078-1082
ISSN:	0929-693X
DOI:	10.1016/j.arcped.2010.03.009
Popis:	Triploidy is one of the most common chromosomal aberrations in spontaneous abortions characterized by a 69-chromosome karyotype. This chromosome abnormality is rare in live-born children. Prevalence is lower than 1/50,000. We report on two premature newborns, male and female, born at 35 and 37 weeks of gestation, who presented with severe intrauterine growth retardation, facial dysmorphy, myelomeningocele, and syndactyly. They died during the first hours of life due to respiratory distress syndrome. Analysis of the karyotype showed a homogeneous triploidy on all mitoses: 69 XXY and 69 XXX. The parental origin of the triploidy can have specific effects in the fetal phenotype and the development of the placenta.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e379b7fc9f80ac0c47e9832ac2600b70 https://doi.org/10.1016/j.arcped.2010.03.009 Zobrazit plný text záznamu Full Text from ScienceDirect