Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype.
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.
Lassota
Maria
M
Cytogenetics Laboratory and Genetics Clinic at SP ZOZ No. 1, Rzeszów, Poland.
Przełozna
Barbara
B
Płodzien
Marta
M
Bugno
Monika
M
Wnuk
Maciej
M
Kotylak
Zbigniew
Z
Słota
Ewa
E
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*