Lazier Joanna, Chernos Judy, Lowry R Brian
Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta.
Am J Med Genet A. 2014 Sep;164A(9):2385-7. doi: 10.1002/ajmg.a.36636. Epub 2014 Jun 12.
Filippi syndrome is characterized by developmental delay, growth failure, cryptorchidism, bilateral hand and foot syndactyly, and facial dysmorphism. The 2q24q31 contiguous deletion syndrome has similarly been associated with hand and foot anomalies, growth retardation, microcephaly, characteristic facies with a broad prominent nasal root and thin alae nasi, and intellectual disability. We present a patient with this deletion who has a Filippi-like phenotype, which may be the first causative cytogenetic result in this syndrome. This suggests the importance of array comparative genomic hybridization in evaluation of patients with Filippi syndrome, and suggests that the inheritance may not always be autosomal recessive.
菲利皮综合征的特征为发育迟缓、生长障碍、隐睾、手足并指（趾）畸形以及面部畸形。2q24q31连续基因缺失综合征同样与手足异常、生长发育迟缓、小头畸形、具有宽阔突出鼻根和薄鼻翼的特征性面容以及智力残疾有关。我们报告了一名患有这种缺失且具有类似菲利皮综合征表型的患者，这可能是该综合征首个致病细胞遗传学结果。这表明阵列比较基因组杂交在评估菲利皮综合征患者中的重要性，并提示其遗传方式可能并非总是常染色体隐性遗传。
