A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: a case report and review of literature

Am J Med Genet A. 2011 Dec;155A(12):3082-6. doi: 10.1002/ajmg.a.34307. Epub 2011 Nov 3.


We describe a female newborn with a de novo 3.54 megabase (Mb) deletion of 17q22-q23.1 (chr17:53,072,536-56,612,662, hg18) including genes from MSI2 to BCAS3 detected by oligonucleotide array comparative genomic hybridization (aCGH). Prenatal ultrasound examination noted oligohydramnios and ventriculomegaly in the fetus. Postnatal examination found hypotonia, macrocephaly, arachnodactyly of fingers and toes, dysmorphic features, bilateral hearing loss and heart defect. Review of reported cases with genomic findings noted one case with proximal deletion involving the NOG gene and a case series with distal recurrent microdeletions involving the TBX2 and TBX4 genes. Our case presented a unique deletion partially overlapped with the above deletions but not including the NOG, TBX2, and TBX4 genes. A genomic map for deletions in this 17q22-q23.1 region was constructed to further define the common deletion intervals for potential haplo-insufficient genes.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Brain / pathology
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17*
  • Comparative Genomic Hybridization
  • Fatal Outcome
  • Female
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / genetics*
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Phenotype