Partial and complete trisomy 9: delineation of a trisomy 9 syndrome

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 t...

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Bibliographic Details
Published in:Human genetics 1976-05, Vol.32 (2), p.133-140
Main Authors: Sutherland, G R, Carter, R F, Morris, L L
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Chromosome Mapping
Chromosomes, Human, 6-12 and X
Female
Humans
Infant
Infant, Newborn
Karyotyping
Male
Trisomy
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00291495