Review
doi: 10.1002/ajmg.1320440508.
Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases
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- PMID: 1481811
- DOI: 10.1002/ajmg.1320440508
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Review
Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases
Am J Med Genet.
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Abstract
We describe a boy with monosomy for the distal part of the short arm of chromosome 3. He had a congenital heart defect, tetramelic hexadactyly, and typical craniofacial anomalies. Comparison with previously reported cases confirms that the phenotype consists of an identifiable pattern of malformation.
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