三体9是一种罕见的染色体疾病,新生儿死亡率高。它通常以马赛克形式出现。大多数幸存下来的患者都是严重的智力障碍。这种综合症的主要特征是“球形”鼻子,小眼症,四肢脱臼,和其他骨骼异常,心脏,泌尿生殖系统,和中枢神经系统。大多数患者有发育和认知障碍。马赛克患者比非马赛克患者存活时间更长,但据信淋巴细胞或成纤维细胞的镶嵌程度与存活或损伤程度无关。在这份报告中,我们介绍了一个2.5岁的男性马赛克三体性9例,以显示该染色体疾病的广泛临床发现。病人有心脏异常,腹股沟疝,还有无精打采的睾丸.他的耳朵有点低矮,深陷畸形的眼睛,小睑裂,小颌畸形,发育迟缓和单侧视发育不全。该患者最突出的面部异常是眼睛异常。G显带的细胞遗传学分析显示核型47XY,在检查的44%的外周淋巴细胞中+9(47XY,+9[22],46XY[28])。他的父母核型是正常的。中度发育迟缓,在该患者中检测到的数据表明,这种染色体疾病的运动和认知障碍的范围相当广泛。在遗传咨询以及这种染色体疾病的产前诊断中应考虑这一事实。
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are \"bulbous\" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Patients with mosaicism survive longer than non-mosaics, but it was believed that the degree of mosaicism in lymphocytes or fibroblasts does not associate with survival or degree of impairment. In this report, we present a 2.5-year-old male
case of mosaic trisomy 9, to show the wide range of clinical findings in this chromosome disorder. The patient had cardiac anomalies, inguinal hernia, and undescendent testes. He had low-set slightly malformed ears, deeply-set malformed eyes, small palpebral fissures, micrognathia, developmental delay and unilateral optic hypoplasia. The most prominent facial anomaly in this patient was eye anomalies. Cytogenetic analysis with G banding showed karyotype 47XY,+9 in 44% of peripheral lymphocytes examined (47XY,+9[22], 46XY[28]). His parents\' karyotypes were normal. Moderate developmental delay, which was detected in this patient shows that the range of motor and cognitive impairment in this chromosomal disorder is quite broad. This fact should be considered in genetic counseling as well as prenatal diagnosis of this chromosomal disorder.