Clinical and cytogenetic aspects of the 21 deletion syndrome

SUNScholar Research Repository

Show simple item record

dc.contributor.author Gericke, G. S.
dc.contributor.author Steyn, M. F.
dc.contributor.author Retief, A. E.
dc.contributor.author Thom, J. C.
dc.contributor.author Van Niekerk, W. A.
dc.date.accessioned 2011-03-18T14:57:55Z
dc.date.available 2011-03-18T14:57:55Z
dc.date.issued 1975
dc.identifier.citation Gericke, G.S., Steyn, M.F. & Retief, A.E., Thom, J.C., Van Niekerk, W.A. 1975. Clinical and cytogenetic aspects of the 21 deletion syndrome. SA Medical Journal, 49(22) 959-964, http://archive.samj.org.za/
dc.identifier.issn 0256-9574 (print)
dc.identifier.issn 2078-5135 (online)
dc.identifier.uri http://hdl.handle.net/10019.1/7738
dc.description Article
dc.description The original publication is available at http://www.samj.org.za
dc.description.abstract The clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison is made with 24 cases of deletions involving chromosome 21 described in the literature. Six of these have been studied by means of recently developed chromosome banding techniques. Cases presumably arise through somatic non disjunction or chromosome breakage. When the chromosomes of both parents are normal the recurrence risk is negligible. en_ZA
dc.format.extent 6 p. ; ill. en_ZA
dc.language.iso en_ZA
dc.publisher Health and Medical Publishing Group (HMPG)
dc.subject Chromosome deletion 21 en_ZA
dc.subject Chromosome abnormalities en_ZA
dc.subject Chromosome banding pattern en_ZA
dc.subject Chromosome disorders en_ZA
dc.title Clinical and cytogenetic aspects of the 21 deletion syndrome en_ZA
dc.type Article
dc.description.version Publishers' version
dc.rights.holder Health and Medical Publishing Group (HMPG)


Files in this item

This item appears in the following Collection(s)

Show simple item record

-->