title: Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation.
abstract: We report, a newborn presenting multiple congenital abnormalities with karyotype; 47,XY,der(7)t(6;7)(pter-p23::p15-->qter),+der(9)t(7;9)(pter-->p15::q21.2--> pter)t(6;7;9)(p23;p15;q21.2)mat[20]. The mother and her phenotypically normal daughter were carriers of a complex chromosomal rearrangement with karyotypes; 46,XX,t(6;7;9)(p23;p15;q21.2)[20]. Paternal chromosomes were normal. In our case the extra derivative chromosome was the result of a 4:2 segregation of the chromosomes involved in translocation during oogenesis. Double partial trisomy in newborns resulting from 4:2 segregation is a rare event, and double partial trisomies of the 6p23-pter and trisomy 9pter-q22 regions have not reported to date.
authors.affiliation: Department of Medical Biology, School of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Z
authors.initials: Z
authors.lastname: Cetin
authors.forename: E
authors.initials: E
authors.lastname: Mihci
authors.forename: I
authors.initials: I
authors.lastname: Keser
authors.forename: K
authors.initials: K
authors.lastname: Karaali
authors.forename: S
authors.initials: S
authors.lastname: Berker
authors.forename: G
authors.initials: G
authors.lastname: Luleci
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D059785:Karyotype; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*