PDF(Pubmed)
Abstract：
The objective of this work was to identify phenotypic features and cytogenetic aspects of trisomy 13 in Moroccan population. The retrospective study was conducted on a group of 9 cases diagnosed cytogenetically with trisomy 13. The study of sex ratio showed a slight female dominance in our group of cases. The major clinical findings included: Holoprosencephaly, microphthalmia and anophthalmia, coloboma of iris, cleft lip and palate, nasal and ear abnormalities, retrognathism and sloping forehead, polydactyly, capillary hemangiomas, omphalocele, congenital heart defect, renal abnormalities, cryptorchidism, language delay. The cytogenetic study showed the dominance of the free and homogeneous trisomy 13 (56%). Patients who have this formula are dead at an early age (does not exceed one month). However, each of the chromosomal formula, trisomy 13 by translocation and partial trisomy 13 t (13;18), was found in 20% of our patients. The partial trisomy 13 t (13;18) is the only variant that is still alive and the patients with this anomaly suffer mainly from renal and cardiac anomalies with slight dysmorphia and psychomotor retardation. Our study shows the interest of the cytogenetic analysis in the diagnosis accuracy and in the genetic counseling of patients with Patau syndrome and their parents.
摘要：
这项工作的目的是确定摩洛哥人口中13三体的表型特征和细胞遗传学方面。对一组9例被诊断为13三体的细胞遗传学病例进行了回顾性研究。性别比研究显示，在我们组的病例中，女性占主导地位。主要临床发现包括：大前脑，小眼症和无眼,虹膜结肠瘤,唇腭裂,鼻和耳异常，逆行和倾斜的前额，多指,毛细血管瘤，脐膨出,先天性心脏病,肾脏异常，隐睾,语言延迟。细胞遗传学研究表明，游离和同质三体性13（56％）占主导地位。患有这种配方的患者在早期（不超过一个月）死亡。然而,每个染色体公式，三体性13易位和部分三体性13t(13;18)，在我们20%的病人身上发现了.部分三体性13t（13;18）是唯一仍然存活的变体，患有这种异常的患者主要患有肾脏和心脏异常，伴有轻微的畸形和精神运动迟缓。我们的研究表明，细胞遗传学分析对Patau综合征患者及其父母的诊断准确性和遗传咨询感兴趣。
