Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).
dc.contributor.author | Thanemozhi, G | en_US |
dc.contributor.author | Santhiya, S T | en_US |
dc.contributor.author | Chandra, N | en_US |
dc.contributor.author | Palka, G | en_US |
dc.contributor.author | Jayam, S | en_US |
dc.contributor.author | Gopinath, P M | en_US |
dc.date.accessioned | 2000-08-14 | en_US |
dc.date.accessioned | 2009-05-30T11:29:15Z | |
dc.date.available | 2000-08-14 | en_US |
dc.date.available | 2009-05-30T11:29:15Z | |
dc.date.issued | 2000-08-14 | en_US |
dc.description.abstract | A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier. | en_US |
dc.description.affiliation | Department of Genetics, Dr. A.L.M. Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India. | en_US |
dc.identifier.citation | Thanemozhi G, Santhiya ST, Chandra N, Palka G, Jayam S, Gopinath PM. Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3). Indian Journal of Pediatrics. 2000 Aug; 67(8): 601-4 | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/79725 | |
dc.language.iso | eng | en_US |
dc.source.uri | https://medind.nic.in/icb/icbai.shtml | en_US |
dc.subject.mesh | Abnormalities, Multiple --diagnosis | en_US |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Chromosome Aberrations --diagnosis | en_US |
dc.subject.mesh | Chromosome Disorders | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 18 | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 4 | en_US |
dc.subject.mesh | Fathers | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Foot Deformities, Congenital --genetics | en_US |
dc.subject.mesh | Heart Defects, Congenital --genetics | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | In Situ Hybridization, Fluorescence | en_US |
dc.subject.mesh | India | en_US |
dc.subject.mesh | Infant, Newborn | en_US |
dc.subject.mesh | Monosomy --diagnosis | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Translocation, Genetic | en_US |
dc.subject.mesh | Trisomy --diagnosis | en_US |
dc.title | Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3). | en_US |
dc.type | Case Reports | en_US |
dc.type | Journal Article | en_US |
dc.type | Research Support, Non-U.S. Gov't | en_US |
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