Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

被引：15

作者：

Tassano, Elisa ^{[1
]}

Mirabelli-Badenier, Marisol ^{[2
]}

Veneselli, Edvige ^{[2
]}

Puliti, Aldamaria ^{[3
,4
]}

Lerone, Margherita ^{[4
]}

Vaccari, Carlotta Maria ^{[3
]}

Morana, Giovanni ^{[5
]}

Porta, Simona ^{[1
]}

Gimelli, Giorgio ^{[1
]}

Cuoco, Cristina ^{[1
]}

机构：

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

[2] Ist Giannina Gaslini, Dept Neurosci & Rehabil, Child Neuropsychiat Unit, I-16147 Genoa, Italy

[3] Univ Genoa, Dep Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

[4] Ist Giannina Gaslini, UOC Genet Med, I-16147 Genoa, Italy

[5] Ist Giannina Gaslini, Pediat Neuroradiol Unit, I-16147 Genoa, Italy

来源：

MOLECULAR CYTOGENETICS | 2015年 / 8卷

关键词：

Interstitial deletion; 6q21q22.1; Array-CGH; Karyotype/phenotype correlation; Poland syndrome; GENOTYPE-PHENOTYPE CORRELATION; CARDIO-FACIAL SYNDROME; 6Q DELETION; MICRODELETION; DELINEATION; SEQUENCE; FEATURES; 6Q16.1; POLAND;

D O I：

10.1186/s13039-015-0134-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet. Results: We present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, skeletal, muscle, and brain anomalies. Discussion: In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in order to establish a possible karyotype/phenotype correlation.

引用

页数：6

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