2026, Vol: 1, Issue: 1
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Case Report 


Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise

Laura Rodríguez Martínez (1, ), Inmaculada Campos-galindo (2), Niklas Padutsch (3).


Abstract
Background: G-banding karyotyping remains the cornerstone of investigating genetically caused infertility. However, in contrast to classic Robertsonian translocations, reciprocal whole-arm translocations between acrocentric chromosomes, which retain 46 chromosomes, can go easily unnoticed. Methods: Karyotyping was performed on a 48-year-old male patient due to infertility. The study was extended by fluorescence in situ hybridization (FISH) using specific probes following a finding on chromosome 21 that needed to be clarified. Results: Karyotyping revealed an unusual appearance of a dark band near the centromere on chromosome 21q. Otherwise, no aberrant banding patterns were observed along the remaining 45 chromosomes. FISH uncovered a balanced reciprocal translocation between chromosomes 14 and 21: 46,XY,?der(21).ish t(14;21) (q11.2~12;q11.2~21.1). Conclusion: Complete or almost complete whole-arm translocations between the long arms of acrocentric chromosomes can be virtually invisible in banding cytogenetics. FISH can substantiate a suggested semicryptic balanced rearrangement. Subsequent genetic counseling can only be performed properly based on high-quality chromosomal characterization. This underscores the importance of training in banding cytogenetics.

Key words: Reciprocal translocation; whole-arm translocation; acrocentric chromosomes; fluorescence in situ hybridization (FISH); male infertility; banding cytogenetics


 
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How to Cite this Article
Pubmed Style

( LRM, ) , () IC, () NP. Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. ChrSomics. 2026; 1(1): 25-30.

Web Style

( LRM, ) , () IC, () NP. Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. https://chromosomics.org/?mno=328640 [Access: July 31, 2026].

AMA (American Medical Association) Style

( LRM, ) , () IC, () NP. Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. ChrSomics. 2026; 1(1): 25-30.


Vancouver/ICMJE Style

( LRM, ) , () IC, () NP. Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. ChrSomics. (2026), [cited July 31, 2026]; 1(1): 25-30.


Harvard Style

(, L. R. M., ), ., (), . I. C. & (), . N. P. (2026) Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. ChrSomics, 1 (1), 25-30.


Turabian Style

(, Laura Rodríguez Martínez, ), Inmaculada Campos-galindo (), and Niklas Padutsch (). 2026. Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. ChromoSomics, 1 (1), 25-30.


Chicago Style

(, Laura Rodríguez Martínez, ), Inmaculada Campos-galindo (), and Niklas Padutsch (). "Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise." ChromoSomics 1 (2026), 25-30.


MLA (The Modern Language Association) Style

(, Laura Rodríguez Martínez, ), Inmaculada Campos-galindo (), and Niklas Padutsch (). "Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise." ChromoSomics 1.1 (2026), 25-30. Print.


APA (American Psychological Association) Style

(, L. R. M., ), ., (), . I. C. & (), . N. P. (2026) Almost complete whole-arm reciprocal translocation t(14;21) in an infertile male: A hidden diagnostic challenge that highlights the need for cytogenetic expertise. ChromoSomics, 1 (1), 25-30.


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