Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
نویسندگان
چکیده
منابع مشابه
Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psycho...
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ژورنال
عنوان ژورنال: Journal of Visualized Experiments
سال: 2008
ISSN: 1940-087X
DOI: 10.3791/870