Child Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
Gene. 2013 Jul 25;524(2):368-72. doi: 10.1016/j.gene.2013.04.033. Epub 2013 Apr 21.
We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. High resolution karyotype and FISH analysis detected a de novo duplication of the short arm of chromosome 20. A molecular characterization of the chromosomal anomaly was performed by array-CGH, confirming a 17.98 Mb duplication of the short arm of chromosome 20 associated with a small duplication on chromosome 3p, that was shown to be maternally inherited. This is one of the few cases of de novo trisomy 20p with extensive workup, characterization at molecular level and close follow-up from the neonatal period to age 30 months. We also compared the phenotype of our patient with that previously reported in literature, therefore contributing to better define the trisomy 20p syndrome and helping pediatricians and geneticists to better counsel families about the developmental prognosis of these children.
我们报告了一例具有言语延迟、智力障碍、运动笨拙、多动、面部畸形、短指（趾）和身材矮小的男孩。心电图、超声心动图、肾脏超声、脑电图、眼底检查和听觉脑干反应均正常。脑磁共振成像显示左侧颞部蛛网膜囊肿和小松果体囊肿。高分辨率染色体核型分析和 FISH 分析检测到 20 号染色体短臂的新生重复。通过 array-CGH 对染色体异常进行了分子特征分析，证实 20 号染色体短臂 17.98Mb 重复与 3p 染色体上的小重复相关，该重复为母系遗传。这是少数经过广泛检查、分子水平特征分析并从新生儿期到 30 个月密切随访的 20 号染色体三体症病例之一。我们还将我们患者的表型与文献中先前报道的进行了比较，从而有助于更好地定义 20 号染色体三体症，并帮助儿科医生和遗传学家更好地为这些孩子的发育预后提供咨询。
