Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3). [electronic resource]
Producer: 19930617Description: 83-7 p. digitalISSN:- 0148-7299
- Abnormalities, Multiple -- genetics
- Adult
- Blotting, Southern
- Child, Preschool
- Chromosome Aberrations -- genetics
- Chromosomes, Human, Pair 4
- DNA -- analysis
- Developmental Disabilities -- genetics
- Face -- abnormalities
- Facial Bones -- abnormalities
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Microcephaly -- genetics
- Thumb -- abnormalities
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
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