Median nodule of the upper lip: An autosomal dominant trait
| Autor: | Isabel Fernandez, Kohei Shiota, Yoshitsugu Sugio, Masato Tsukahara |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Adult
Male media_common.quotation_subject Cousin Biology medicine Humans Girl Child Maternal grandfather Genetics (clinical) Genes Dominant media_common Paternal grandfather Female cousin Upper lip Infant Autosomal dominant trait Nodule (medicine) Anatomy Lip Pedigree stomatognathic diseases Child Preschool Female medicine.symptom |
| Zdroj: | American Journal of Medical Genetics. 51:13-15 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320510104 |
| Popis: | We describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8-month-old infant girl, was otherwise phenotypically normal except for a median nodule of the upper lip. The proposita's elder brother and mother, both phenotypically normal, also had the similar nodule of the upper lip. On the mother's side, the proposita's greatgrandmother, great-grandaunt, grandfather, greataunt, two aunts, and one female cousin all had a median nodule of the upper lip. In family 2, the proposita, proposita's mother and maternal grandfather had a median nodule of the upper lip. In family 3, the proposita, proposita's father, paternal grandfather, paternal uncle, and cousin had a median nodule of the upper lip. Analysis of 3 families indicates that the condition is an autosomal dominant trait. © 1994 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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