Trisomy 4p14 ? 4pter with translocation t(4;15)(p14;p12) in the father
- 1 January 1975
- journal article
- research article
- Published by Springer Nature
- Vol. 29 (4) , 329-335
- https://doi.org/10.1007/bf00394195
Abstract
A trisomy 4p14 → 4pter in a 15-year-old girl is reported. The main features are physical and mental retardation and the absence of gross malformations. The relevance of other symptoms found in the patient is discussed. Es wird über eine Trisomie 4p14 → 4pter bei einem 15jährigen Mädchen berichtet. Das klinische Bild ist gekennzeichnet durch körperliche und geistige Retardierung sowie durch das Fehlen von schweren Mißbildungen. Die Spezifität der dysplastischen Stigmata wird an Hand von vergleichbaren Fällen diskutiert.Keywords
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