Abstract
A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar deletion. Apparently there is wide clinical variability in patients with deletions in this area.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Couturier J., Morichon-Delvallez N., Dutrillaux B. Deletion of band 13q21 is compatible with normal phenotype. Hum Genet. 1985;70(1):87–91. doi: 10.1007/BF00389468. [DOI] [PubMed] [Google Scholar]
- Nielsen J., Homma A., Christiansen F., Rasmussen K., Saldaña-Garcia P. Deletion long arm 13. Hum Genet. 1977 Jul 26;37(3):339–345. doi: 10.1007/BF00393617. [DOI] [PubMed] [Google Scholar]
- Noel B., Quack B., Rethore M. O. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet. 1976 Jun;9(6):593–602. doi: 10.1111/j.1399-0004.1976.tb01618.x. [DOI] [PubMed] [Google Scholar]
- Serena-Lungarotti M., Calabro A., Mariotti G., Mastroiacovo P. P., Provenzano S., Dallapiccola B. Interstitial deletion 13q syndromes: a report on two unrelated patients. Hum Genet. 1979;52(3):269–274. doi: 10.1007/BF00278676. [DOI] [PubMed] [Google Scholar]
- Weisswichert P., Stögmann W. Interstitieller Stückverlust am Chromosom Nr. 13: Ein neues Syndrom? Klin Padiatr. 1979 May;191(3):318–324. [PubMed] [Google Scholar]
- Yunis E., Zuñiga R., Ramírez E. Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31. Hum Genet. 1981;56(3):283–286. doi: 10.1007/BF00274680. [DOI] [PubMed] [Google Scholar]
- Yunis J. J., Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child. 1978 Feb;132(2):161–163. doi: 10.1001/archpedi.1978.02120270059012. [DOI] [PubMed] [Google Scholar]