Interstitial 11q24 deletion: a new case and review of the literature

被引：5

作者：

Tassano, Elisa ^{[1
]}

Janis, Sara ^{[2
]}

Canepa, Alberto ^{[3
]}

Zanotto, Elisabetta ^{[2
]}

Torello, Corrado ^{[1
]}

Gimelli, Giorgio ^{[1
]}

Cuoco, Cristina ^{[1
]}

机构：

[1] Ist Giannina Gaslini, Lab Citogenet, Lgo G Gaslini 5, I-16147 Genoa, Italy

[2] Ist Giannina Gaslini, UO Neuropsichiatria Infantile, Genoa, Italy

[3] Ist Giannina Gaslini, Dipartimento Nefrol, Genoa, Italy

来源：

JOURNAL OF APPLIED GENETICS | 2016年 / 57卷 / 03期

关键词：

Array-CGH; 11q24; deletion; Genotype-phenotype correlation; GTPASE-ACTIVATING PROTEIN; LONG NONCODING RNA; JACOBSEN SYNDROME; TRANSCRIPTION FACTORS; ETS FAMILY; CRITICAL REGION; GENE; DISORDER; IDENTIFICATION; ASSOCIATION;

D O I：

10.1007/s13353-015-0333-2

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.

引用

页码：357 / 362

页数：6

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