Proximal deletion of the long arm of chromosome 12 is a rare chromosomal abnormality described in about 20 patients. Known deletions span the region from 12q11 to 12q13 and include the genes YAF2, AMIGO2, and NELL2. These are suggested as candidate genes for the key phenotypic features such as growth and psychomotor retardation. Here, we present a case with a 3.1-Mb interstitial deletion at 12q12q13.11. The clinical observations of our patient overlap with the major common findings for published cases. The deletion detected in our patient does not involve the previously suggested candidate genes YAF2 and AMIGO2. We draw a correlation between proximal deletion 12q and ARID2 deficiency by comparing patients carrying gross deletions with a cohort of patients carrying small intragenic ARID2 deletions as well as patients with single nucleotide variants (SNVs) in ARID2. Growth retardation <-2 SD is present in cohorts with both gross and small deletions spanning ARID2. However, ARID2 SNVs do not correlate with severe growth retardation.
Mol Syndromol

中文翻译：

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近距离删除12q具有增长迟缓的新见解

第12号染色体长臂的近端缺失是一种罕见的染色体异常，在约20名患者中描述。已知的缺失范围从12q11到12q13，包括基因YAF2，AMIGO2和NELL2。这些被认为是关键表型特征（如生长和精神运动发育迟缓）的候选基因。在这里，我们介绍了一个在12q12q13.11删除3.1 Mb间隙的情况。我们患者的临床观察与已发表病例的主要常见发现重叠。在我们的患者中检测到的缺失不涉及先前建议的候选基因YAF2和AMIGO2。我们得出近端缺失12q与ARID2之间的相关性通过比较携带总体缺失的患者与携带少量基因内基因ARID2缺失的患者以及ARID2中具有单核苷酸变异（SNV）的患者的队列。生长迟缓<-2 SD存在于ARID2的总体缺失和微小缺失中。但是，ARID2 SNV与严重的生长迟缓无关。
摩尔综合症