Prader-Willi syndrome (PWS) is one of the common neurogenetic disorders associated with intellectual disability. PWS involves a complex inheritance pattern and is caused by an absence of gene expression on the paternally inherited 15q11.2-q13 region, either due to deletion, maternal uniparental disomy or imprinting defect. The syndrome is characterized principally by severe neonatal hypotonia, a weak suck in infancy that is later followed by hyperphagia and obesity, developmental delay, intellectual disability and short stature. In the case of the chromosome 15q26-qter deletion syndrome or Drayer's syndrome, very few reports have been published. Its characteristics include intrauterine growth restriction, postnatal growth failure, varying degrees of intellectual disability, developmental delay, typical facial appearance and diaphragmatic hernia. The present paper describes a female patient in whom clinical findings were suggestive of PWS and deletion in the 15q26-qter region. Both karyotyping and methylation-specific polymerase chain reaction were shown to be normal. Nevertheless, fluorescence in situ hybridization showed a 15qter deletion that was later mapped by single nucleotide polymorphism (SNP)-array. The deleted genomic region involves the insulin-like growth factor-1 receptor (IGF1R) gene, which is related to short stature, developmental delay and intellectual disability. This case had various clinical characteristics in common with the cases of 15q26-qter deletionand characteristics compatible with PWS.

普拉德-威利综合症（PWS）是与智障相关的常见神经遗传性疾病之一。PWS涉及复杂的遗传模式，是由于父本遗传的15q11.2-q13区域缺失，母体单亲二体性或印记缺陷导致基因表达缺失所致。该综合征的主要特征是严重的新生儿肌张力低下，婴儿吮吸不足，随后出现食欲亢进和肥胖，发育迟缓，智力障碍和身材矮小。对于15q26-qter染色体缺失综合征或Drayer's综合征，很少有报道。其特征包括子宫内生长受限，产后生长衰竭，不同程度的智力障碍，发育迟缓，典型的面部外观和diaphragm疝。本文描述了一名女性患者，其临床表现提示PWS和15q26-qter区缺失。核型分析和甲基化特异性聚合酶链反应均显示正常。尽管如此，荧光原位杂交显示15qter缺失，随后通过单核苷酸多态性（SNP）阵列进行定位。缺失的基因组区域涉及胰岛素样生长因子-1受体（IGF1R）基因，该基因与身材矮小，发育迟缓和智力残疾有关。该病例具有与15q26-qter缺失病例相同的各种临床特征，并且具有与PWS兼容的特征。