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Case Reports
. 2024 Sep 1;16(9):e68402.
doi: 10.7759/cureus.68402. eCollection 2024 Sep.

Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases

Ravindran Ankathil  1   2   3 , Wan Nur Amalina Zakaria  3 , Mohd Ridzuan Hamid  3 , Siti Mariam Ismail  3 , Nazihah Mohd Yunus  3 , Aziati Azwari Annuar  3 , Hans Van Rostenberghe  4
Affiliations
Case Reports

Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases

Ravindran Ankathil et al. Cureus. .

Abstract

Chromosomal rearrangement can disrupt gene function by interfering with coding sequences or their regulatory regions. The breakpoint in these rearrangements can pinpoint the disease-related gene's location. This paper presents two rare cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23). The first case involves a girl with hearing impairment, inheriting a balanced translocation of chromosomes 6 and 14 from her father. The second case describes a dysmorphic baby boy with congenital bilateral choanal atresia and a tertiary trisomy, involving a translocation between chromosome 6 (6p24) and chromosome 14 (14q22), resulting in a derivative chromosome (14) in addition to the normal complement of chromosomes 6 and 14. The boy's mother had a history of four recurrent miscarriages. However, the origin of this tertiary trisomy in the second case presented could not be delineated because the parents did not consent and declined their blood samples for karyotyping. Parental karyotyping and chromosomal analysis are crucial for investigating recurrent miscarriages, identifying genetic causes, guiding reproductive decisions, and improving successful pregnancy outcomes for affected couples.

Keywords: abnormal chromosomes; congenital abnormalities; rare translocation; tertiary trisomy; translocations 6 & 14.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. The karyogram of Case 1 identified by the G-banding technique showing the chromosome constitution 46,XX,der(6)t(6;14)(p25;q23) karyotype pattern. A derivative chromosome 6 has resulted from a balanced translocation of the chromosome 14 segment distal to 14q23 to the short arm of chromosome 6 at band 6p25. The arrow indicates the abnormal chromosome.
Figure 2
Figure 2. Parental chromosome studies of Case 1 revealed an abnormal karyotype 46,XY, der(6)t(6;14)(p25;q23) confirming the direct inheritance of der(6)t(6;14)(p25;q23) from the father. The arrow indicates the abnormal chromosome.
Figure 3
Figure 3. The karyogram of Case 2 identified by the G-banding technique showing the chromosome constitution 47,XY,+der(14)t(6;14)(p24;q22). The arrow indicates the abnormal chromosome.
Figure 4
Figure 4. The origin of the extra chromosome in Case 2 was further evaluated by molecular cytogenetic analysis employing the FISH technique using a WCP for chromosome 6 (red signals) and 14 (green signals) confirming the extra chromosome derived from segments of chromosome 6 and 14
FISH: fluorescence in-situ hybridization; WCP: whole chromosome painting probe
See this image and copyright information in PMC

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