Santos Jéssica Fernandes Dos, Acosta Angelina Xavier, Scheibler Gabriela Gayer, Pitanga Paula Monique Leite, Alves Esmeralda Santos, Meira Joanna Goes Castro, Zanardo Évelin Aline, Kulikowski Leslie Domenici, Lima Renata Lúcia Leite Ferreira de, Carvalho Acácia Fernandes Lacerda de
Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil.
Department of Medical Genetics, Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil; Pediatrics Department, School of Medicine, Federal University of Bahia, Salvador, Bahia, Brazil.
Eur J Med Genet. 2020 Aug;63(8):103955. doi: 10.1016/j.ejmg.2020.103955. Epub 2020 May 27.
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-威利综合征（PWS）是一种与智力残疾相关的常见神经遗传性疾病。PWS涉及复杂的遗传模式，由父源遗传的15q11.2-q13区域的基因表达缺失引起，原因可能是缺失、母源单亲二体或印记缺陷。该综合征的主要特征为严重的新生儿肌张力减退、婴儿期吸吮无力，随后出现贪食和肥胖、发育迟缓、智力残疾和身材矮小。对于15q26-qter染色体缺失综合征或德雷尔综合征，发表的报道极少。其特征包括宫内生长受限、出生后生长发育不良、不同程度的智力残疾、发育迟缓、典型面容和膈疝。本文描述了一名女性患者，其临床症状提示为PWS且存在15q26-qter区域缺失。染色体核型分析和甲基化特异性聚合酶链反应均显示正常。然而，荧光原位杂交显示存在15qter缺失，随后通过单核苷酸多态性（SNP）阵列进行了定位。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缺失病例相同的多种临床特征，且具有与PWS相符的特征。
