2013
DOI: 10.1002/ajmg.a.35889
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Constitutional telomeric association (Y;7) in a patient with a female phenotype

Abstract: Telomeric associations (TAs) are fusions between two telomeres of two different chromosomes without visible loss of chromosomal material. Constitutional telomeric associations are rare chromosomal anomalies. We report on the cytogenetic and molecular analyses of a TA involving chromosomes Y and 7 in a child with a female phenotype. Prenatal cytogenetic analysis showed a 45,X chromosome complement in all cells. No fetal abnormality was identified at ultrasound examinations and the pregnancy went to term. During… Show more

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Cited by 1 publication
(5 citation statements)
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“…Thus, we speculated from our current findings for this patient that the original dic(Y;22) chromosome was generated by unstable TAs. Since similar SNP microarray data were also previously reported for tas(Y;7), the mosaicism in our present patient is likely to have arisen via the latter process [ 3 ]. We hereby propose a novel “pulled apart” mechanism which is caused by TA fragility and that leads to this unique mosaicism.…”
Section: Discussionsupporting
confidence: 86%
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“…Thus, we speculated from our current findings for this patient that the original dic(Y;22) chromosome was generated by unstable TAs. Since similar SNP microarray data were also previously reported for tas(Y;7), the mosaicism in our present patient is likely to have arisen via the latter process [ 3 ]. We hereby propose a novel “pulled apart” mechanism which is caused by TA fragility and that leads to this unique mosaicism.…”
Section: Discussionsupporting
confidence: 86%
“…We here report a patient with possible TA between chromosomes Y and 22 manifesting a Turner syndrome phenotype. Four cases with TAs involving an autosome and chromosome Y have been reported to date (Table 1 ) [ 3 5 , 13 ]. All of these prior cases involve a mosaicism of cell lines with TA and with 45,X, suggesting the instability of the TA chromosome, resulting in a Y chromosome loss.…”
Section: Discussionmentioning
confidence: 99%
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