title: Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.
abstract: We present a 2-year-old boy with a de novo 46,XY,idic(Y)(q11.221),del(4)(q26q31.1) karyotype. G-banding, FISH, MLPA, and SNP-array techniques were used to characterize the 24-Mb deletion in 4q and the breakpoint in the isodicentric Y-chromosome region between 15,982,252 and 15,989,842 bp. The patient presented with mild facial dysmorphism, hemangioma, mild frontal cerebral atrophy, and Dandy-Walker variant. Essentially, this case reveals that patients can present more complex genomic imbalances than initially suspected.
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: T I
authors.initials: TI
authors.lastname: Mancini
authors.forename: M M
authors.initials: MM
authors.lastname: Oliveira
authors.forename: A R N
authors.initials: AR
authors.lastname: Dutra
authors.forename: A B A
authors.initials: AB
authors.lastname: Perez
authors.forename: R M
authors.initials: RM
authors.lastname: Minillo
authors.forename: S S
authors.initials: SS
authors.lastname: Takeno
authors.forename: M I
authors.initials: MI
authors.lastname: Melaragno