A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology. [electronic resource]
Producer: 20090519Description: 94-101 p. digitalISSN:- 1424-859X
- Adolescent
- Alleles
- Child
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 2
- Fathers
- Female
- Gene Dosage
- Gene Frequency
- Humans
- Infant
- Loss of Heterozygosity
- Male
- Oligonucleotide Array Sequence Analysis
- Phenotype
- Polymorphism, Single Nucleotide
- Sequence Deletion
- Translocation, Genetic
- Uniparental Disomy
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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