Koshy Beena, Mandal Kausik, Srivastava Vivi M, Loius Preeti T, Danda Sumita
Developmental Paediatrics Clinical Genetics Cytogenetics Units, Christian Medical College, Vellore, Tamil Nadu, India.
Clin Dysmorphol. 2011 Jul;20(3):148-151. doi: 10.1097/MCD.0b013e328343b9b9.
18p deletion syndrome can be easily missed in a clinical setting as the facial features, though typical, can be overlooked and the other features including growth retardation and learning disability are nonspecific. We present a family in which the proband has 18p deletion syndrome. The proband performed better on verbal skills than on performance tasks on intelligence testing. She had attention-deficit hyperactivity disorder, which required medication and behavioral therapy. Subsequent cytogenetic analysis in her elder brother who presented with learning difficulties showed partial trisomy 18p and the maternal karyotype is 46, XX,(15;18)(p11.2;p11.2). This is the first report of a family with a balanced maternal translocation resulting in 18p deletion in one sibling and 18p partial trisomy in the other.
18p缺失综合征在临床环境中很容易被漏诊，因为其面部特征虽然典型，但可能被忽视，而其他特征如生长发育迟缓及学习障碍并不具有特异性。我们报告了一个家系，其中先证者患有18p缺失综合征。在先证者的智力测试中，其言语技能表现优于操作任务表现。她患有注意力缺陷多动障碍，需要药物治疗和行为疗法。对其出现学习困难的哥哥进行的后续细胞遗传学分析显示为18p部分三体，其母亲的核型为46,XX,(15;18)(p11.2;p11.2)。这是首例关于母亲平衡易位导致一个子代出现18p缺失而另一个子代出现18p部分三体的家系报告。
