De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Abstract

Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion represents one of the rarest subtelomeric imbalances; patients with distal monosomy 12p present different phenotypes ranging from muscular hypotonia to autism spectrum disorders. The present study reported a prenatal diagnosis of a male fetus presenting ultrasound evidence of corpus callosum dysplasia and ventriculomegaly showing a 3q13q21.2 deletion and a 12p13.33 microdeletion paternally inherited. Among several features previously attributed to the terminal deletion of 3q, corpus callosum dysplasia and ventriculomegaly have rarely been reported together. As the 12p13.33 microdeletion in the father was associated only with muscular hypotonia and joint laxity, the involvement of terminal 12p deletions in the clinical features of the fetus was not possible to verify during the prenatal period. The present case report may provide a reference for prenatal diagnosis and genetic counseling in patients who present 3q13q21.2 deletions and 12p13.33 microdeletion.

Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder

“…They determined that patients with deletions encompassing the critical region 3q13.31 exhibited common characteristics, including DD, abnormal male genitalia, postnatal overgrowth, and dysmorphic features. Recently, Libotte et al 8 reported a case of a fetus with a newly identified interstitial deletion of 12.87 Mb in the chromosome region 3q13q21.2, along with a paternally inherited microdeletion of 1.2 Mb in the chromosome region 12p13.3. The fetus presented with corpus callosum dysplasia and a mild ventriculomegaly as observed in the fetal ultrasound scan.…”