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

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Lassota M., Przelozna B., Plodzien M., Bugno M., Wnuk M., Kotylak Z., Slota E.

Journal of Applied Genetics

2005

vol. 46

issue 4

419-421

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.

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome

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Myszka A., Karpinski P., Makowska I., Lassota M., Przelozna B., Slezak R., Sasiadek M. M.

vol. 51

issue 3

331-335

We report on a 13-month-old girl showing dysmorphic features and a delay in psychomotor development. She was diagnosed with a balanced de novo translocation 46,X,t(X;13)(p11.2;p13) and non-random inactivation of the X chromosome. FISH analysis, employing the X chromosome centromere and XIST-region-specific probes, showed that the XIST locus was not involved in the translocation. Selective inactivation of paternal X, which was involved in translocation, was revealed by the HUMARA assay. The pattern of methylation of 5 genes located within Xp, which are normally silenced on an inactive X chromosome, corresponded to an active (unmethylated) X chromosome. These results revealed that in our proband the X chromosome involved in translocation (Xt) was preferentially inactivated. However, genes located on the translocated Xp did not include XIST. This resulted in functional Xp disomy, which most probably accounts for the abnormal phenotype in our patient.

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2 Journal of Applied Genetics

1 2010

1 2005

2 Lassota M.

2 Przelozna B.

1 Bugno M.

1 Karpinski P.

1 Kotylak Z.

1 Makowska I.

1 Myszka A.

1 Plodzien M.

1 Sasiadek M. M.

1 Slezak R.

1 Slota E.

1 Wnuk M.

Search results

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

DNA methylation analysis of a de novo balanced X;13 translocation in a girl with abnormal phenotype: evidence for functional duplication of the whole short arm of the X chromosome