Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

Autor: Titte J. Wiersma, Sérgio M.M.J. Castedo, Irma Mulder, Anneke Y. vd Veen, Annemieke H. vd Hout, B Leegte, Anthonie J. van Essen, Gita M. B. Tan-Sindhunata

Publikováno v: American Journal of Medical Genetics, 92(2), 147-152. Wiley-Liss Inc.
Tan-Sindhunata, G, Castedo, S, Leegte, B, Mulder, I, Vd Veen, A Y, Vd Hout, A H, Wiersma, T J & Van Essen, A J 2000, ' Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype ', American Journal of Medical Genetics, vol. 92, no. 2, pp. 147-152 . https://doi.org/10.1002/(SICI)1096-8628(20000515)92:2<147::AID-AJMG13>3.0.CO;2-I

A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aecac4ef324536aa67521dc9b09f01f
https://doi.org/10.1002/(sici)1096-8628(20000515)92:2<147::aid-ajmg13>3.0.co