A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion

Cytogenet Genome Res. 2019;159(3):126-129. doi: 10.1159/000504424. Epub 2019 Dec 13.

Abstract

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

Keywords: Array-CGH; Chromosome rearrangement; Karyotype; Mental retardation; Microdeletion.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Corpus Callosum / pathology*
  • Humans
  • Male
  • Microcephaly / genetics*
  • Seizures / genetics*