Partial trisomy 10q: a recognizable syndrome
| Autor: | Johanna M. Klep-de Pater, Jan B. Bijlsma, Henny F. de France, Nico J. Leschot, Mia Duijndam-van den Berge, Jan O. van Hemel |
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| Rok vydání: | 1979 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Microcephaly Adolescent Trisomy Scoliosis Biology Intellectual Disability Genetics medicine Humans Hypertelorism Dermatoglyphics Genetics (clinical) Growth Disorders Chromosomes Human 6-12 and X Psychomotor retardation Anatomy Syndrome Middle Aged medicine.disease Hypotonia Pedigree Palpebral fissure Phenotype Child Preschool Face Karyotyping Female medicine.symptom |
| Zdroj: | Human genetics. 46(1) |
| ISSN: | 0340-6717 |
| Popis: | Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bowshaped mouth, short neck, (kypho)scoliosis, and in some cases microcephaly. |
| Databáze: | OpenAIRE |
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