A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype

作者：Jain Shailly; Yang Ping; Farrell S A^*

来源：European Journal of Medical Genetics, 2010, 53(2): 108-110.

DOI：10.1016/j.ejmg.2009.12.006

• 8q22.1 deletion
• Nablus mask-like facial syndrome
• Microdeletion

Nablus mask-like facial syndrome (NMLFS) has been reported in six patients with a recognizable facial appearance, along with other clinical features. Microdeletions of 8q21.3-8q22.1 were identified in all six cases, with the deleted region in common being 8q22.1 (2.78 Mb in length). In this report, we describe a child with speech delay and features of an autistic spectrum disorder and with a 1.6 Mb deletion of 8q22.1. The deletion has significant chromosomal overlap with previously reported examples of NMLFS, but our patient lacks the clinical features noted in the published cases.

• 出版日期2010-4