Open AccessInterstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features
Author(s) -
T.I. Mancini,
Márcio Moysés de Oliveira,
A. R. N. Dutra,
Ana Beatriz Alvarez Perez,
Renata Moldenhauer Minillo,
Sylvia Satomi Takeno,
Maria Isabel Melaragno
Publication year - 2012
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000338468
Subject(s) - multiplex ligation dependent probe amplification , breakpoint , karyotype , ventriculomegaly , genetics , medicine , chromosome , biology , anatomy , exon , fetus , pregnancy , gene
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.