Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.
Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported.
Meram Medical Faculty, Department of Medical Genetics, Necmettin Erbakan University, Konya, Turkey.
Ayse Gul
AG
Zamani
Aynur
A
Acar
Gul
G
Durakbasi-Dursun
M Selman
MS
Yildirim
Serdar
S
Ceylaner
Ebru
E
Tuncez
D002871:Chromosome Banding; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*
chromosomal abnormalities; chromosome 18; parental origin; pericentric inversion