Abstract
A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.
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- Aarskog D. Down's syndrome transmitted through maternal mosaicism. Acta Paediatr Scand. 1969 Nov;58(6):609–614. doi: 10.1111/j.1651-2227.1969.tb04769.x. [DOI] [PubMed] [Google Scholar]
- Akatsuka A., Nishiya O., Kitagawa T., Kageyama A., Inana I., Nakagome Y. Trisomy 9 mosaicism with punctate mineralization in developing cartilages. Eur J Pediatr. 1979 Aug;131(4):271–275. doi: 10.1007/BF00444348. [DOI] [PubMed] [Google Scholar]
- Bowen P., Ying K. L., Chung G. S. Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediatr. 1974 Jul;85(1):95–97. doi: 10.1016/s0022-3476(74)80297-0. [DOI] [PubMed] [Google Scholar]
- Caspersson T., Lindsten J., Zech L., Buckton K. E., Price W. H. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet. 1972 Mar;9(1):1–7. doi: 10.1136/jmg.9.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Djernes B. W., Soukup S. W., Bove K. E., Wong K. Y. Congenital leukemia associated with mosaic trisomy 9. J Pediatr. 1976 Apr;88(4 Pt 1):596–597. doi: 10.1016/s0022-3476(76)80015-7. [DOI] [PubMed] [Google Scholar]
- Francke U., Benirschke K., Jones O. W. Prenatal diagnosis of trisomy 9. Humangenetik. 1975 Sep 23;29(3):243–250. doi: 10.1007/BF00297630. [DOI] [PubMed] [Google Scholar]
- Hansmann I. Structural variability of human chromosome 9 in relation to its evolution. Hum Genet. 1976 Mar 12;31(3):247–262. doi: 10.1007/BF00270855. [DOI] [PubMed] [Google Scholar]
- Howard-Peebles P. N., Stoddard G. R. Pericentric inversions of chromosome number 9: benign or harmful? Hum Hered. 1979;29(2):111–117. doi: 10.1159/000153026. [DOI] [PubMed] [Google Scholar]
- Metaxotou C., Kalpini-Mavrou A., Panagou M., Tsenghi C. Polymorphism of chromosome 9 in 600 Greek subjects. Am J Hum Genet. 1978 Jan;30(1):85–89. [PMC free article] [PubMed] [Google Scholar]
- Nielsen J., Friedrich U., Hreidarsson A. B., Zeuthen E. Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+. Humangenetik. 1974;21(3):211–216. doi: 10.1007/BF00279014. [DOI] [PubMed] [Google Scholar]
- Schinzel A., Hayashi K., Schmid W. Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik. 1974;25(3):171–177. doi: 10.1007/BF00281424. [DOI] [PubMed] [Google Scholar]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
- Seabright M., Gregson N., Mould S. Trisomy 9 associated with an enlarged 9qh segment in a liveborn. Hum Genet. 1976 Dec 15;34(3):323–325. doi: 10.1007/BF00295299. [DOI] [PubMed] [Google Scholar]
- Sumner A. T. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res. 1972 Nov;75(1):304–306. doi: 10.1016/0014-4827(72)90558-7. [DOI] [PubMed] [Google Scholar]
- Wang H. S., Hamerton J. L. C-Band polymorphisms of chromosomes 1, 9, and 16 in four subgroups of mentally retarded patients and a normal control population. Hum Genet. 1979 Oct 2;51(3):269–275. doi: 10.1007/BF00283393. [DOI] [PubMed] [Google Scholar]