Partial trisomy 3q causing mild Cornelia de Lange phenotype
| Autor: | L M Grimsley, L J Butler, R W Palmer, S E Holder, M Baraitser |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1994 |
| Předmět: |
Male
medicine.medical_specialty Cornelia de Lange Syndrome Trisomy Biology Nuclear Family Gene mapping De Lange Syndrome Genetics medicine Humans Genetics (clinical) Partial Trisomy Cytogenetics Infant Karyotype medicine.disease Phenotype Child Preschool Karyotyping Female Chromosome painting Chromosomes Human Pair 3 Research Article |
| Popis: | A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome painting studies) in relation to the possible localisation of the Cornelia de Lange gene are discussed. |
| Databáze: | OpenAIRE |
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