Hoshina Takao, Seto Toshiyuki, Shimono Taro, Sakamoto Hiroaki, Okuyama Torayuki, Hamazaki Takashi, Yamamoto Toshiyuki
1Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
2Department of Medical Genetics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Hum Genome Var. 2019 Oct 18;6:47. doi: 10.1038/s41439-019-0079-1. eCollection 2019.
Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) × 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical features were common to those previously reported in patients with overlapping deletions. The patient's deletion size was 881 kb-the smallest yet reported. This therefore narrowed down the deletion responsible for the common clinical features. The deleted region included seven genes; deletion of , , and may have caused our patient's neurodevelopmental delay.
1q23.3q24.1间质性缺失较为罕见。在此，染色体微阵列检测在一名患有中度发育迟缓、听力丧失、隐睾症及其他独特特征的患者中发现了一个新发的arr[GRCh37]1q23.3q24.1(164816055_165696996)×1微缺失。这些临床特征与先前报道的重叠缺失患者的特征相同。该患者的缺失大小为881 kb，是迄今报道的最小缺失。因此，这缩小了导致常见临床特征的缺失范围。缺失区域包含7个基因；、和的缺失可能导致了该患者的神经发育迟缓。
