Clinical diagnosis by whole-genome sequencing of a prenatal sample. [electronic resource]
Producer: 20121214Description: 2226-32 p. digitalISSN:- 1533-4406
- Adult
- CHARGE Syndrome -- diagnosis
- Chromosome Aberrations
- Chromosome Disorders -- diagnosis
- Female
- Fetal Diseases -- diagnosis
- Genetic Testing -- methods
- Genome, Human
- Genomic Library
- Heart Defects, Congenital -- diagnostic imaging
- Humans
- Karyotype
- Mutation
- Oligonucleotide Array Sequence Analysis
- Pregnancy
- Prenatal Diagnosis -- methods
- Translocation, Genetic
- Ultrasonography, Prenatal
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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