Orellana C, Roselló M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martínez F
Hospital Universitario La Fe, Valencia, Spain.
Cytogenet Genome Res. 2009;127(1):5-8. doi: 10.1159/000279261. Epub 2010 Jan 27.
Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.
1q44-qter的亚显微缺失在大多数患者中会导致严重智力迟钝、严重生长发育迟缓、小头畸形和胼胝体发育不全或缺失。1q44中至少有3个区间被描述为包含导致胼胝体异常的基因的关键区域。在本报告中，我们描述了一名患者，通过44K寡核苷酸阵列比较基因组杂交（44K安捷伦科技公司产品）检测到其1q44存在1152 kb的新生小间隙缺失，且具有缺乏胼胝体异常的轻度表型。第一个缺失的寡核苷酸位于242.638 Mb（在ADSS基因内），最后一个缺失的寡核苷酸位于243.791 Mb（在KIF26B基因内）。本文报告的患者的临床和分子学发现仍与AKT3或ZNF238基因在胼胝体发育中的作用相一致。
