Department of Plastic and Reconstructive Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 Jan 9.
In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identified two patients with craniosynostosis and microcephaly with a deletion in the 2p15p16.1 chromosomal region. This region has been associated with a new microdeletion syndrome, for which patients have various features in common, including microcephaly and intellectual disability. Deletions were identified using Affymetrix 250K SNP array and further characterized by fluorescence in situ hybridization (FISH) analysis and qPCR. The deletions in our two patients overlapped within the 2p15p16.1 microdeletion syndrome area and were 6.8 and 6.9 Mb in size, respectively. FISH and qPCR confirmed the presence of only one copy in this region. Finemapping of the breakpoints indicated precise borders in our patients and were further finemapped in two other previously reported patients. Clinical features of patients with deletions in the 2p15p16.1 region vary. Including data from our patients, now eight out of nine reported patients have microcephaly, one of the major features, and all had intellectual disability. The current reported two patients add different forms of craniosynostosis to the clinical spectrum of this recently recognized microdeletion syndrome.
在一项使用基因组芯片对（复杂）颅缝早闭患者进行的筛查项目中，我们发现了两名颅缝早闭伴小头畸形的患者，其 2p15p16.1 染色体区域存在缺失。该区域与一种新的微缺失综合征相关，患者具有多种共同特征，包括小头畸形和智力障碍。使用 Affymetrix 250K SNP 芯片检测到缺失，并通过荧光原位杂交（FISH）分析和 qPCR 进一步进行特征分析。我们的两名患者的缺失在 2p15p16.1 微缺失综合征区域内重叠，大小分别为 6.8 和 6.9 Mb。FISH 和 qPCR 证实该区域只有一个拷贝。断裂点的精细映射确定了我们患者的精确边界，并在另外两名之前报道的患者中进一步进行了精细映射。2p15p16.1 区域缺失患者的临床特征存在差异。包括我们患者的数据在内，现在已有 9 名报道患者中的 8 名存在小头畸形，这是主要特征之一，所有患者都存在智力障碍。目前报道的两名患者为这一最近确认的微缺失综合征的临床表现增加了不同形式的颅缝早闭。
