title: Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
abstract: In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciprocal translocation between chromosomes 12 and 18. Her karyotype was described as 46,XX,t(12;18)(p13;q12). Father's karyotype was normal, described as 46,XY. The boy's karyotype was defined as 47,XY,+der(18)t(12;18)(p13;q12). The additional chromosome appeared probably due to 3:1 meiotic disjunction of the maternal balanced translocation, known as tertiary trisomy. The mother displayed a normal phenotype and delivered earlier a healthy child. However, the boy with the unbalanced karyotype shows multiple congenital abnormalities.
authors.affiliation: Cytogenetics Laboratory and Genetics Clinic at SP ZOZ No. 1, Rzeszów, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Lassota
authors.forename: Barbara
authors.initials: B
authors.lastname: Przełozna
authors.forename: Marta
authors.initials: M
authors.lastname: Płodzien
authors.forename: Monika
authors.initials: M
authors.lastname: Bugno
authors.forename: Maciej
authors.initials: M
authors.lastname: Wnuk
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Kotylak
authors.forename: Ewa
authors.initials: E
authors.lastname: Słota
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D040582:Inheritance Patterns / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011044:Poland; D014178:Translocation, Genetic / Q000235:genetics*