Holt‐Oram syndrome in four half‐siblings with unaffected parents: brief clinical report
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
Abstract
The Holt‐Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt‐Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.
Details
Originalsprache | Englisch |
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Seiten (von - bis) | 241-244 |
Seitenumfang | 4 |
Fachzeitschrift | Clinical Genetics |
Jahrgang | 39 |
Ausgabenummer | 4 |
Publikationsstatus | Veröffentlicht - Apr. 1991 |
Peer-Review-Status | Ja |
Extern publiziert | Ja |
Externe IDs
PubMed | 2070544 |
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Schlagworte
Schlagwörter
- germline mutation, heart defect, Holt‐Oram, skeletal malformation, syndrome