Alhashem Amal M, Almohaid Manal S, Alanazi Lina, Alhabardi Hedayah
Pediatrics / Medical Genetics, Prince Sultan Medical Military City, Riyadh, SAU.
Pediatrics, Princess Nourah Bint Abdulrahman University, Riyadh, SAU.
Cureus. 2020 Jan 26;12(1):e6778. doi: 10.7759/cureus.6778.
We report here two brothers with an intellectual disability (ID), dysmorphic features, speech delay, and congenital hypotonia, with chromosomal microarray confirmed. However, two different de novo chromosomal aberrations; unbalanced translocations (13;18) (q34,q23) were found in the elder boys and de novo 6q25 deletion in the second boy. The boy with 13q34 microdeletion and 18q23 microduplication suffered from ID, obesity, dysmorphic features, speech delay, and seizure while the one with 6q25 deletion presented with ID and speech delay. Both parents were tested and were normal. The third child had mild hypotonia at infancy, which improved later. Whole-exome sequencing (WES) showed the three boys carried a likely benign variant in MED12, inherited from the healthy, asymptomatic mother. The father suffered from rheumatoid arthritis and was on chemotherapy during the conception of the first two affected boys. This report places emphasis on the use of a chromosomal microarray in patients with ID, even with familial cases, and reports the paternal use of methotrexate.
我们在此报告两兄弟，他们患有智力障碍（ID）、畸形特征、语言发育迟缓以及先天性肌张力减退，经染色体微阵列检测得以证实。然而，发现了两种不同的新生染色体畸变；年长男孩存在不平衡易位（13；18）（q34，q23），而第二个男孩存在新生6q25缺失。患有13q34微缺失和18q23微重复的男孩患有智力障碍、肥胖、畸形特征、语言发育迟缓以及癫痫，而患有6q25缺失的男孩表现为智力障碍和语言发育迟缓。对父母双方进行检测，结果均正常。第三个孩子在婴儿期有轻度肌张力减退，后来有所改善。全外显子测序（WES）显示这三个男孩在MED12基因中携带一个可能为良性的变异，该变异遗传自健康、无症状的母亲。父亲患有类风湿性关节炎，在前两个患病男孩受孕期间正在接受化疗。本报告强调了在患有智力障碍的患者中使用染色体微阵列的情况，即使是家族性病例，并报告了父亲使用甲氨蝶呤的情况。
