Abstract
Cytogenetic examination of a dysmorphic infant with multiple congenital abnormalities revealed a possible de novo interstitial deletion in the long arm of chromosome 16. Conclusive proof of the deletion was obtained by flow karyotype analysis of the patient and both parents, which showed that the deleted segment was approximately 7000 kb in size.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Elder F. F., Ferguson J. W., Lockhart L. H. Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region. Hum Genet. 1984;67(2):233–236. doi: 10.1007/BF00273010. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., Melchoir S., Jaeken J., van den Berghe H. Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21). Hum Genet. 1977 Oct 14;38(3):343–346. doi: 10.1007/BF00402162. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., Proesmans W., Van Hoey G., Van den Berghe H. Interstitial 16q deletion with typical dysmorphic syndrome. Ann Genet. 1981;24(2):124–125. [PubMed] [Google Scholar]
- Harris P., Boyd E., Ferguson-Smith M. A. Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting. Hum Genet. 1985;70(1):59–65. doi: 10.1007/BF00389460. [DOI] [PubMed] [Google Scholar]
- Harris P., Boyd E., Young B. D., Ferguson-Smith M. A. Determination of the DNA content of human chromosomes by flow cytometry. Cytogenet Cell Genet. 1986;41(1):14–21. doi: 10.1159/000132190. [DOI] [PubMed] [Google Scholar]
- Hoo J. J., Lowry R. B., Lin C. C., Haslam R. H. Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clin Genet. 1985 Apr;27(4):420–425. doi: 10.1111/j.1399-0004.1985.tb02287.x. [DOI] [PubMed] [Google Scholar]
- Taysi K., Fishman M., Sekhon G. S. A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22). Birth Defects Orig Artic Ser. 1978;14(6C):343–347. [PubMed] [Google Scholar]
- Young B. D., Ferguson-Smith M. A., Sillar R., Boyd E. High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7727–7731. doi: 10.1073/pnas.78.12.7727. [DOI] [PMC free article] [PubMed] [Google Scholar]