Rare case of two chromosome abnormaliries combination in newborns

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The clinical description of the combination of two nosological entities in chromosomal pathology in one patient is presented. The Edwards syndrome is characterized by multiple congenital malformations including the changes in cerebral and facial skulls, malformations of musculoskeletal, cardiovascular and urinary systems. In trisomy for X-chromosome it is also possible the manifestation of developmental congenital malformations. The submitted example of combined chromosomal pathology in the child I. justifies the importance of monitoring the status of the fetus in the first and second trimesters of pregnancy to detect malformations in the fetus, and if necessary, to implement invasive prenatal diafnosis of chromosomal pathology in the specified time for the futher decision the prologation or termination of pregnancy with anomalous fetus.

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Edwards syndrome, x trisomy, malformations, chromosomal syndromes

Короткий адрес: https://sciup.org/148182738

IDR: 148182738

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