Trisomy 6q25?6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet
| Autor: | E. Rossi, V. D'Apuzzo, W. Schmid |
|---|---|
| Přispěvatelé: | University of Zurich, Schmid, Werner |
| Jazyk: | angličtina |
| Rok vydání: | 1979 |
| Předmět: |
Male
2716 Genetics (clinical) 10039 Institute of Medical Genetics Clinical Ground Trisomy 610 Medicine & health Biology Craniosynostoses Ptosis 1311 Genetics Mental Retardation Intellectual Disability Scrotum medicine Genetics Humans Abnormalities Multiple Child Club Foot Genetics (clinical) Muscle contracture Chromosomes Human 6-12 and X Main Symptom Turricephaly Hypogonadism Micropenis Anatomy medicine.disease Metabolic Disease Clubfoot Palpebral fissure medicine.anatomical_structure Karyotyping 570 Life sciences biology Mouth Abnormalities medicine.symptom |
| DOI: | 10.5167/uzh-228815 |
| Popis: | Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features. |
| Databáze: | OpenAIRE |
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