Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter)
| Autor: | R H Smythe, D R Romain, L M Columbano-Green, H Cairney, J Goldsmith, R G Parfitt |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Monosomy medicine.medical_specialty Chromosomes Human Pair 22 Chromosome Disorders 22q13 deletion syndrome Epicanthus Biology Genetics medicine Humans Genetics (clinical) Chromosome Aberrations Long philtrum Cytogenetics Infant Karyotype Anatomy medicine.disease Molecular biology Hypotonia Chromosome Banding Female Chromosome Deletion medicine.symptom Chromosome 22 Research Article |
| Zdroj: | Journal of Medical Genetics. 27:588-589 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.27.9.588 |
| Popis: | An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal. |
| Databáze: | OpenAIRE |
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