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E. Therman, G. Sarto, K. Patau (1974)
Apparently isodicentric but functionally monocentric X chromosome in man.American journal of human genetics, 26 1
(1973)
Analyse de la trisomie 9 p par dtnaturation mbnag6e
Abe (1977)
Partial tetrasomy 9(9pter→9g2101) due to an extra isodicentric chromosomeAnn. Genet., 20
(1973)
Tetrasomie partielle du chromosome
to an extra isodicentric chromosome
(1977)
Partial tetrasomy
E. Orye, H. Verhaaren, H. Egmond, A. Devloo-Blancquaert (1975)
A new case of the trisomy 9p syndrome: Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p)) and a peculiar congenital heart defectClinical Genetics, 7
(1975)
A new case of trisomy 9 p syndrome
L. Knight (1978)
Clinical Atlas of Human ChromosomesCanadian Medical Association Journal, 119
An unusual rearrangement of chromosome 9 was identified in a male infant with multiple congenital malformations. The rearrangement appeared as a fusion of two number 9 chromosomes with similar long-arm breakpoints. Since the infant also possessed two normal 9's, the presence of the additional chromosome resulted in partial tetrasomy: 47,XY, + tdic(9;9)(q22;q22). Clinical and autopsy examinations revealed many features reminiscent of trisomy 13. The tdic was functionally monocentric, although some evidence of activity at the second centromere was observed. Both parents had normal karyotypes, and C-banding demonstrated that at least one of the 9h regions on the tdic was likely to be of maternal origin.
Clinical Genetics – Wiley
Published: Sep 1, 1978
Keywords: Centromere; chromosome 9; dicentric; tetrasomy.
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