The frequency and spectrum of birth defects among 486 longlivers from Ivano-Frankivsk region (West Ukraine)

R. Kozovyi, L. Kovalchuk, N. Kitsera
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Abstract

Birth defects (BD) have a significant impact on the health and further development of the child and its adaptation in society. The purpose of this study was to document the epidemiological features of BD in longlivers from Precarpathian region (West Ukraine). Methods : cytogenetic, clinical, genealogical. Results : The medical history of BDs, somatic pathology and karyotyping was observed in 486 longlivers aged 90-102 from Ivano-Frankivsk region (West Ukraine) during 17 years (1998–2014 yy). In the group of 486 longlivers there were 15 (3.1%) patients with BD which in our study were isolated. The following defects have been diagnosed: cleft lip and cleft palate (2 men and 1 female), genital organs (1 man) and musculoskeletal system (2 men and 9 female). So patients lived for so long and it did not really affect the quality of their lives). In the longlivers prevailed cleft lip with or without palate, syndactyly and congenital complete absence of upper limb and significant difference was found (p<0.05) in Eurocat. Stable chromosomal aberrations in any longlivers person is not identified. In a group of 15 longlivers with BDs and in the group of 130 longlivers without BDs, there were no significant differences (p>0.05) in the frequency of chromosomal aberrations. Conclusion Our study also showed that no significantly risk of BDs among longlivers 3.1% and population of Ukraine -2.32% and Eurocat- 2.55%. The spectrum of chromosomal aberrations of the proband with BD and longlivers without BD had no significant difference (p>0.05) among them.
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乌克兰西部伊凡诺-弗兰科夫斯克地区486名长寿者出生缺陷的频率和频谱分析
出生缺陷对儿童的健康和进一步发展及其对社会的适应具有重要影响。本研究的目的是记录来自乌克兰西部不稳定巴阡山脉地区的长寿者BD的流行病学特征。方法:细胞遗传学、临床、家谱学。结果:对乌克兰西部伊凡诺-弗兰科夫斯克地区486例90 ~ 102岁的长寿者(1998 ~ 2014年)进行了17年(1998 ~ 2014年)bd病史、躯体病理及核型分析。在我们的研究中,486名长寿者中有15名(3.1%)患者患有BD。以下缺陷已被诊断:唇腭裂(2男1女),生殖器官(1男)和肌肉骨骼系统(2男9女)。所以病人活了这么长时间,这并没有真正影响他们的生活质量)。长肝患者中唇裂伴、无腭裂、并指畸形和先天性上肢完全缺失的染色体畸变发生率差异有统计学意义(p0.05)。结论我们的研究还显示,长寿人群(3.1%)、乌克兰人群(2.32%)和欧洲人群(2.55%)发生BDs的风险不显著。先证者与无BD者的染色体畸变谱差异无统计学意义(p>0.05)。
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