Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):92-101. doi: 10.1002/ajmg.c.31485. Epub 2016 Apr 20.


This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, cyanotic episodes triggered by specific movement, dysmorphic features, and developmental delays. Analysis by CytoScan HD array identified a 12.1 Mb interstitial deletion of 7q22.1q31.1 (98,779,628-110,868,171). We present a comprehensive review of the literature surrounding intermediate 7q deletions that overlap with this child's deletion, and an analysis of candidate genes in the deleted region. © 2016 Wiley Periodicals, Inc.

Keywords: 7q22.1q31.1; cardiac defect; developmental delay; dysmorphic features; intermediate 7q deletion; interstitial 7q deletion; structural brain abnormality.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics
  • Developmental Disabilities / genetics
  • Facies
  • Humans
  • Male
  • Muscular Atrophy / genetics

Supplementary concepts

  • Thakker Donnai syndrome