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

T.I. Mancini | Zendy; Mariana MoysésOliveira | Zendy; A.R.N. Dutra | Zendy; Ana Beatriz Alvarez Pérez | Zendy; Renata Moldenhauer Minillo | Zendy; S.S. Takeno | Zendy; Maria Isabel Melaragno | Zendy

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

Author(s) -

T.I. Mancini,

Mariana MoysésOliveira,

A.R.N. Dutra,

Ana Beatriz Alvarez Pérez,

Renata Moldenhauer Minillo,

S.S. 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.

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