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

被引：3

作者：

Mancini, T. I. ^{[1
]}

Oliveira, M. M. ^{[1
]}

Dutra, A. R. N. ^{[1
]}

Perez, A. B. A. ^{[1
]}

Minillo, R. M. ^{[1
]}

Takeno, S. S. ^{[1
]}

Melaragno, M. I. ^{[1
]}

机构：

[1] Univ Fed Sao Paulo, Dept Morphol & Genet, Div Genet, BR-04023900 Sao Paulo, Brazil

来源：

MOLECULAR SYNDROMOLOGY | 2012年 / 3卷 / 01期

基金：

巴西圣保罗研究基金会;

关键词：

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

D O I：

10.1159/000338468

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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. Copyright (C) 2012 S. Karger AG, Basel.

引用

页码：39 / 43

页数：5

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