Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00273319.pdf
Reference6 articles.
1. Fried, K., Bar-Yochal, A., Rosenblatt, M., Mundel, G.: Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation. J. Med. Genet. 15, 76?78 (1978)
2. Fryns, J. P., Detavernier, F., van Fleteren, A., van den Berghe, H.: Partial trisomy 18q in a newborn with typical 18 trisomy phenotype. Hum. Genet. (in press, 1978)
3. Hodes, M. E., Cole, J., Palmer, C. E., Reed, T.: Clinical experience with trisomy 18 and 13. J. Med. Genet. 15, 48?60 (1978)
4. Neu, R. L., Ortega, C. C., Barg, G. A., Pinto, W., Gardner, L. I., Howell, W. M., Denton, T. E.: Inclusion of satellites in a 18/21 translocation chromosome shown by ammoniacal-silver staining (sat-banding) in case of partial trisomy 18. J. Med. Genet. 13, 520?522 (1976)
5. Stern, L. M., Murch, A. R.: Pseudohermaphroditism with clinical features of trisomy 18 in an infant trisomic for parts of chromosomes 16 and 18:47,XY,der(18),t(16;18)(p12;q11)mat. J. Med. Genet. 12, 305?308 (1975)
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