Caba Lavinia, Rusu Cristina, Butnariu Lacramioara, Panzaru Monica, Braha Elena, Volosciuc M, Popescu Roxana, Gramescu Mihaela, Bujoran C, Martiniuc Violeta, Covic M, Gorduza E V
Medical Genetics Department, Faculty of Medicine, University of Medicine and Pharmacy "Grigore T. Popa'" - Iasi.
Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7.
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. Most frequent cytogenetic abnormality is free and homogeneous trisomy 13 (80.0%), rarely being detected trisomy mosaics or Robertsonian translocations. The objective of the study was to identify phenotypic features of trisomy 13.
The retrospective study was conducted on a trial group of 14 cases diagnosed cytogenetically with trisomy 13 between January 2000 and December 2012 at lasi Medical Genetics Centre.
Of the 14 cases, 3 were evaluated pathologically (two aborted foetuses and one stillborn), 8 cases were detected in the neonatal period, and 3 in infancy. Clinical diagnosis was supported by the identification of a model of abnormal development, mainly characterized by: maxillary cleft (lip and palate--5 cases; lip--1 case), ocular abnormalities (microphthalmia/anophthalmia--7 cases; cyclopia--1 case), postaxial polydactyly (7 cases), scalp defects (6 cases), congenital heart anomalies (10 cases, 6 patients with atrial septal defect), complete holoprosencephaly (4 cases), ear abnormalities (11 cases), broad nasal root (10 cases). An important issue in confirming the phenotypic variability of Patau syndrome is that the classic clinical triad was identified only in one case.
Patau syndrome is a disease with variable expression and is characterized by a pattern of abnormal prenatal development characterized by facial dysmorphia, polydactyly and severe birth defects (heart, brain) that generate an increased in utero and perinatal mortality.
帕陶综合征的发病率为1/10000 - 20000，唇腭裂、小眼症/无眼症和轴后多指畸形三联征提示临床诊断。最常见的细胞遗传学异常是游离且均匀的13三体（80.0%），很少检测到13三体嵌合体或罗伯逊易位。本研究的目的是确定13三体的表型特征。
对2000年1月至2012年12月在雅西医学遗传学中心经细胞遗传学诊断为13三体的14例病例组成的试验组进行回顾性研究。
14例病例中，3例进行了病理评估（2例流产胎儿和1例死产儿），8例在新生儿期被检测到，3例在婴儿期被检测到。通过识别异常发育模式支持临床诊断，主要特征为：上颌裂（唇腭裂 - 5例；唇裂 - 1例）、眼部异常（小眼症/无眼症 - 7例；独眼畸形 - 1例）、轴后多指畸形（7例）、头皮缺损（6例）、先天性心脏异常（10例，6例房间隔缺损患者）、完全性前脑无裂畸形（4例）、耳部异常（11例）、宽鼻根（10例）。确认帕陶综合征表型变异性的一个重要问题是仅在1例病例中发现了经典的临床三联征。
帕陶综合征是一种表达可变的疾病，其特征是产前异常发育模式，表现为面部畸形、多指畸形和严重出生缺陷（心脏、脑），导致子宫内和围产期死亡率增加。
