Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5.
Chromosome 18 abnormalities rank among the most common autosomal anomalies with 18q being the most frequently affected. A deletion of 18q has been attributed to microcephaly, mental retardation, short stature, facial dysmorphism, myelination disorders, limb and genitourinary malformations and congenital aural atresia. On the other hand, duplications of 18q have been associated with the phenotype of Edwards syndrome. Critical chromosomal regions for both phenotypes are contentious. In this report, we describe the first case of an 11-year old male with a combined interstitial duplication 18q22.1, triplication 18q22.1q22.2 and terminal deletion 18q22.2q23 with phenotypic features of isolated 18q deletion syndrome and absence of phenotypic features characteristic of Edwards syndrome despite duplication of the suggested critical region. This report allows for reevaluation of proposed critical intervals for the phenotypes in deletion 18q syndrome and Edwards syndrome.
18 号染色体异常是最常见的常染色体异常之一，其中 18q 是最常受影响的染色体。18q 的缺失与小头畸形、智力迟钝、身材矮小、面部畸形、髓鞘形成障碍、肢体和泌尿生殖系统畸形以及先天性听骨闭锁有关。另一方面，18q 的重复与爱德华兹综合征的表型有关。两种表型的关键染色体区域存在争议。在本报告中，我们描述了首例 11 岁男性患者，其存在 18q22.1 段的复合性中间重复、18q22.1q22.2 段的三倍性重复和 18q22.2q23 段的末端缺失，表现为孤立性 18q 缺失综合征的表型特征，而无爱德华兹综合征的特征性表型，尽管存在建议的关键区域的重复。本报告允许重新评估缺失 18q 综合征和爱德华兹综合征表型的建议关键区间。
