An Additional Patient With 3q27.3 Microdeletion Syndrome

作者：Castori Marco; Bottillo Irene^*; Laino Luigi; Morlino Silvia; Grammatico Barbara; Grammatico Paola

来源：Journal of Child Neurology, 2015, 30(4): 500-504.

DOI：10.1177/0883073814539557

• haploinsufficiency
• intellectual disability
• Marfanoid habitus
• microdeletion
• optic atrophy
• 3q27

The 3q27.3 microdeletion syndrome has been recently delineated in 7 subjects from 5 families sharing a 1.4 Mb smallest region of overlap. This condition appears recognizable by the association of Marfanoid habitus, mild but distinctive facial dysmorphism, intellectual disability, psychosis, and mood disorder. Here, we describe an additional 17-year-old man with an similar to 7.7-Mb deletion encompassing the 3q27.3 microdeletion critical region, previously run undetected at standard karyotyping. The constellation of major clinical findings overlaps with those reported in the 7 previously published patients and thus confirms the existence of a strongly recognizable syndrome linked to imbalance of 3q27.3. The role of AHSG and, possibly, of other genes in determining the3q27.3 microdeletion habitus is discussed by comparison of the deleted segments. The involvement of adjacent loci and genes, such as OPA1 and GP5, may contribute in this patient to novel satellite features, such as optic atrophy and subclinical coagulopathy.

• 出版日期2015-3