PP77. DYSMORPHIA - THE MAIN SUSPICION FOR CHROMOSOMAL ABNORMALITY
ZISOVSKA ELIZABETA, Lazovska Bratica Obstetric and Gynecology Clinic, Faculty of Medicine, Skopje, Republic of Macedonia email: zisovska@yahoo.com
*Corresponding Author:
page: 81

Abstract

Because of inability to perform cytogenetic screening to the newborns, the recognition of some minor malformations might lead to early detection of chromosomal abnormality. A single minor malformation should not cause concern, especially if it is a feature shared with a normal parent. However, three or more minor malformations should engender further investigation. The aim of our study was to present the results of the chromosomal analysis of the newborns presenting dysmorphic features without familiar or mother's risk for prenatal testing. Newborns with three or more minor malformations detected on the clinical examination during the first few hours after the birth were investigated. Results: during the last five years we got 19,920 live born babies, 120 of them had three or more minor malformations and were investigated, searching chromosomal abnormalities. We got 29 with abnormal karyotype: 15 female newborns 47 XX, +21; 9 male babies 47 XY, +21; 2 male newborns 47 XY, +18; 2 babies 46 XY, inv 9p+q-, and one mosaic 86%46XY/14%47XXY, the rest 91 were without structural or numeric chromosomal aberrations. The main minor malformations found were: epicanthic folds, hypertelorism, upslanting position of palpebral fissure, short and wide nasal bridge, position of the ears, flat filtrum, simian crease, brachydactily, and low posterior hairline. The incidence of Down syndrome in the examined period was 1/667 liveborns and is lower than it found in literature data. It is probably due to the unexpressivness of some minor malformations which could have helped in selection of the suspected newborns.




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