An additional patient with 3q27.3 microdeletion syndrome

Marco Castori, Irene Bottillo, Luigi Laino, Silvia Morlino, Barbara Grammatico, Paola Grammatico

Research output: Contribution to journalArticlepeer-review


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 ∼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.

Original languageEnglish
Pages (from-to)500-504
Number of pages5
JournalJournal of Child Neurology
Issue number4
Publication statusPublished - Mar 26 2015


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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)


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