Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features

Molecular Syndromology

R.M. Minillo¹  M.I. Melaragno¹  A.B.A. Perez¹  S.S. Takeno¹  M.M. Oliveira¹  A.R.N. Dutra¹  T.I. Mancini¹ 

[1] Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

关键词: BAC;    4q deletion;    Dysmorphic features;    FISH;    Isodicentric Y;    Karyotype;    Single nucleotide polymorphism;   

DOI  :  10.1159/000338468

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown