Abstract |
A pericentric inversion of chromosome 9 was detected in the father of a child with partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.
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Authors | J F Mattei, M G Mattei, J P Ardissone, H Taramasco, F Giraud |
Journal | Clinical genetics
(Clin Genet)
Vol. 17
Issue 2
Pg. 129-36
(Feb 1980)
ISSN: 0009-9163 [Print] Denmark |
PMID | 6244909
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- Phosphotransferases
- Adenylate Kinase
|
Topics |
- Abnormalities, Multiple
(enzymology, genetics)
- Adenylate Kinase
(genetics)
- Adult
- Chromosome Deletion
- Chromosome Inversion
- Chromosome Mapping
- Chromosomes, Human, 21-22 and Y
- Chromosomes, Human, 6-12 and X
- Erythrocytes
(enzymology)
- Female
- Humans
- Infant
- Male
- Pedigree
- Phosphotransferases
(genetics)
- Trisomy
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