Additional chromosome in a child as a result of a balanced reciprocal translocation t(12;18)(p13;q12) in his mother's karyotype

• Authors: M. Lassota , B. Przelozna , M. Plodzien , M. Bugno , M. Wnuk , Z. Kotylak , E. Slota
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

CHILD; FISH; KARYOTYPE; RECIPROCAL TRANSLOCATION

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 2005
• Volume: 46
• Issue: 4
• Pages: 419-421

Contributors

author

M. Lassota

author

B. Przelozna

author

M. Plodzien

author

M. Bugno

author

M. Wnuk

author

Z. Kotylak

author

E. Slota

• Document Type: SHORT REPORT
• Publication order reference: Z. Kotylak, Department of Genetics, University of Rzeszow, Sokolowska 26, 36-100 Kolbuszowa, Poland