CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy.
CEINGE Advanced Biotechnology, S.c.a.r.l., Naples, Italy.
Gene. 2014 Feb 15;536(1):213-6. doi: 10.1016/j.gene.2013.11.051. Epub 2013 Dec 4.
The 22q11.2 microduplication is a genomic disorder, characterized from a variable phenotype ranging from different defects to normality. The most common microduplication of 22q11.2 is 3 Mb in size, but there are also cases reported with atypical duplications between 0.8 Mb and 6Mb. Here, we describe a case of a child with macrocephaly, overgrowth with advanced bone age, attention deficits, evidence of mild mental retardation and dysmorphic features. An array-CGH analysis detected a 252 Kb duplication at the 22q11.2 region inherited from mother and 142 Kb duplication at 8q22.1 region inherited from father. Both parents show mild dysmorphic features. The duplicated genes in chromosomes 22q and 8q are TOP3B and PGCP, respectively. We describe for the first time a patient carrying the smaller atypical 22q11.2 duplication who also presents with mild mental retardation and generalized overgrowth. This patient has an additional duplication in 8q22.1 which may act as a genomic modifier of its clinical phenotype.
22q11.2 微重复是一种基因组疾病，其表型从不同的缺陷到正常范围不等。最常见的 22q11.2 微重复大小为 3Mb，但也有报道称存在 0.8Mb 至 6Mb 之间的非典型重复。在这里，我们描述了一例大头畸形、生长过度、骨龄提前、注意力缺陷、轻度智力障碍和发育不良特征的患儿。阵列-CGH 分析检测到患儿从母亲遗传到的 22q11.2 区域的 252Kb 重复和从父亲遗传到的 8q22.1 区域的 142Kb 重复。父母双方均有轻微的发育不良特征。染色体 22q 和 8q 上的重复基因分别是 TOP3B 和 PGCP。我们首次描述了一名携带较小的非典型 22q11.2 重复的患者，该患者还伴有轻度智力障碍和全身性生长过度。该患者在 8q22.1 上还有一个额外的重复，这可能是其临床表型的基因组修饰因子。
