Infant with del(3) (p25-pter): Karyotype-phenotype correlation and review of previously reported cases
| Autor: | K. D. Zang, U. Mau, H. Nienhaus |
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| Rok vydání: | 1992 |
| Předmět: |
Heart Defects
Congenital Male Genetics medicine.medical_specialty Monosomy Pathology Skull Infant Newborn Cytogenetics Karyotype Heart defect Toes Biology medicine.disease Karyotype phenotype correlation Phenotype Facial Bones Chromosome 3 medicine Humans Abnormalities Multiple Chromosomes Human Pair 3 Chromosome Deletion Craniofacial Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 44:573-575 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320440508 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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