Duplication of part of the long arm of chromosome 8 due to a familial 8; 13 translocation

Abstract

A newborn boy with mental retardation, epilepsy, heart malformation and minor somatic abnormalities was found to have a 46, XY,‐13,+der(13), t(8;13) (q21;p11) karyotype. The balanced form of the translocation was observed in the mother.

Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication

“…Chromosome 8q21-q22 duplication is a rare occurrence. Seizures in patients with 8q21 duplication have been observed in 8 out of 11 patients from 3 distinct families described [1][2][3]. In those reports, seizures were not specified, described as "grand mal", "minor seizures", or in one case described as generalized tonic seizure [1][2][3].…”

“…Furthermore, a gene panel including SLC2A1 (linked to early onset absence seizures [13]) as well as other genes associated with GGE did not show any pathological variation. The following factors strongly favor the association between this 8q21.13-q22.2 duplication and GGE: 1) the paucity of single genes previously associated with GGE and negative findings on sequencing of those genes known to be associated with GGE; 2) the recently discovered link between GGEs and CNVs, especially when intellectual disability is present, and 3) the reports of "grand mal", and "minor seizures" in patients in three independent families with 8q21.13-q22.2 duplication [1][2][3].…”

“…Duplication of chromosome region 8q21.13-q22.2 is a rare abnormal copy number variant (CNV) previously reported in a few patients. Although these reports have mentioned the presence of seizures, the description was vague and an electroclinical syndrome has not been delineated [1][2][3]. Herein, we aimed to outline the epilepsy phenotype associated with 8q21.13-q22.2 duplication adding a new genetic finding to the spectrum of genetic generalized epilepsies (GGEs).…”

Airway compression after pulmonary artery banding

“…Partial trisomy 8q is an extremely rare chromosomal abnormality manifesting as mental retardation, growth impairment, dysmorphic facial features, and CHD, among others . Previously reported CHD included VSD, ASD, and tetralogy of Fallot; in the present case, CHD closely resembled these conditions. We encountered the case of a patient experiencing a rare event of airway compression after PAB.…”