De Novo Case of a Partial Trisomy 4p and a Partial Monosomy 8p

Ivana Škrlec, Jasenka Wagner, Silvija Pušeljić, Marija Heffer, Feodora Stipoljev


The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1→4pter and a deletion of a chromosomal segment 8p23.1→8pter. His karyotype was determined by applying classical GTG banding and FISH method (WHCR region, centromere 4, centromere 8, telomere 8p) as 46,XY,der(8)t(4;8)(p16.1;p23.1).ish der(8)t(4;8)(D8S504-,WHCR+,D8Z2+)dn. Parents are not related and have normal karyotypes, indicating de novo origin. We have compared similarity of the clinical features in our proband to other patients carrying only a duplication of the distal part of 4p or a deletion of distal part of 8p or similar combination described in the literature.


chromosome aberrations, clinical findings, partial trisomy 4p, partial monosomy 8p, phenotypic variability, unbalanced translocation, fluorescence in situ hybridization

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