title: Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones.
abstract: The role of balanced translocations in the human morphogenesis is difficult to interpret. A balanced reciprocal translocation (BRT) was observed in a female child referred with a history of regression of milestones. The cytogenetic findings by GTG-banding and fluorescence in situ hybridization revealed a BRT involving chromosomes 11p and 21q, i.e. 46,XX, t(11;21)(p13;q22). The father was found to be a carrier of the same BRT. This is the first report of reciprocal translocation involving 11p and 21q. The possible reasons for the manifestation of clinical features in the proband due to inherited BRT are discussed.
authors.affiliation: Diagnostics Division, Center for DNA Fingerprinting & Diagnostics, ECIL Road, Nacharam, Hyderabad 500 076, India. radha@www.cdfd.org.in
authors.forename: A Radha
authors.initials: AR
authors.lastname: Ramadevi
authors.forename: K
authors.initials: K
authors.lastname: Prabhakara
authors.forename: Usha
authors.initials: U
authors.lastname: Dutta
mesh_terms: D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D002891:Chromosomes, Human, Pair 21; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D014178:Translocation, Genetic