A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies
| Autor: | A Schinzel, Fabrizio Dutly, Franz Binkert, Alessandra Baumer, Ronnie Gundelfinger |
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| Přispěvatelé: | University of Zurich, Schinzel, Albert |
| Rok vydání: | 1998 |
| Předmět: |
Male
Larynx 2716 Genetics (clinical) Microcephaly 10039 Institute of Medical Genetics 610 Medicine & health Camptodactyly Vertebral fusion 1311 Genetics chromosomal deletion medicine Humans Abnormalities Multiple Genetics (clinical) Chromosomal Deletion 3p14 business.industry Breakpoint Anatomy medicine.disease Hypoplasia Pedigree Palpebral fissure medicine.anatomical_structure Child Preschool 570 Life sciences biology Female Chromosomes Human Pair 3 Chromosome Deletion medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. 77:302-305 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19980526)77:4<302::aid-ajmg10>3.0.co;2-m |
| Popis: | An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short up-slanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronchi, clino- and camptodactyly of little fingers, and sacral vertebral fusion. Determination of microsatellites mapping to the deleted segment demonstrated that the deletion had occurred in the paternal germ line. This is the seventh patient with a deletion of 3p14, and comparison with the six previously reported cases does not yet allow definition of a specific pattern of minor and major anomalies. |
| Databáze: | OpenAIRE |
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