Abstract：
Genetic disorders can be monogenic or chromosomal. Deletions, duplications, and cryptic imbalances due to rearrangements of the telomeres are seen in a number of patients with psychomotor and language delay. Here, the authors report a case of 1-y-old boy born to nonconsanguineous couple who was evaluated for global developmental delay with phenotypic resemblance to a monogenic disorder namely Robinow syndrome. Cytogenetic microarray showed a double segment imbalance involving chromosome 6p25.3p25.2 and chromosome 8q23.3q24.3. Robinow syndrome also known as fetal face syndrome is a rare disorder with characteristic facial phenotype resembling fetal face with macrocephaly, low-set ears, broad great toes, gum hypertrophy, micropenis, and rhizomelia. Facial features include hypertelorism, wide mouth and short nose with upturned tip. It can have dominant or recessive mode of inheritance. The chromosomal abnormality in this case may provide clue to some novel gene for Robinow syndrome etiology.
摘要：
遗传性疾病可以是单基因的或染色体的。删除,重复,在许多患有精神运动和语言延迟的患者中，可以看到由于端粒重排而导致的隐性失衡。这里,作者报告了一例非近亲夫妇所生的1岁男孩，该男孩接受了全球发育迟缓评估，其表型与单基因疾病即Robinow综合征相似。细胞遗传学微阵列显示出涉及染色体6p25.3p25.2和染色体8q2.3q24.3的双节段失衡。Robinow综合征也称为胎儿面部综合征是一种罕见的疾病，具有特征性的面部表型，类似于胎儿面部并伴有大头畸形，低设定的耳朵，宽阔的大脚趾，牙龈肥大,小阴茎,和根瘤菌.面部特征包括过度近视，嘴宽，鼻子短，尖端向上翻。它可以有显性或隐性的遗传方式。这种情况下的染色体异常可能为Robinow综合征的病因提供了一些新基因的线索。
