Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 32 (2) , 133-140
- https://doi.org/10.1007/bf00291495
Abstract
Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9)(p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.Keywords
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