Genetics Center - VACSERA

An 18-month-old female presenting with clinical features consistent with asymmetric crying face syndrome.

Cytogenetic study revealed:

46,XX,t(2;8)(q14.2;p22)

This female karyotype shows a balanced reciprocal translocation between chromosome 2q14.2 and chromosome 8p22, with no detectable gain or loss of chromosomal material at the current resolution.

*However, disruption at or near the breakpoints may affect gene function or regulation and could be clinically relevant, especially in the presence of developmental, neurological, or unexplained features.

**Further testing, such as chromosomal microarray or whole exome/genome sequencing, is recommended to assess for sub-microscopic imbalances or gene disruptions.
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37 y.o. female, G1P1, presenting with secondary infertility and a history of six unsuccessful IVF,

Cytogenetic study revealed:

46, XX,t(4;15)(q21.3;q26.1)
Female karyotype with a balanced reciprocal translocation between the long arms of chromosomes 4 and 15. This can result in the production of gametes with unbalanced chromosomal content, which may lead to the reported infertility & recurrent failed IVF.
** preimplantation genetic testing (PGT-A & PGT-SR) are useful to select embryos with a balanced or normal chromosomal complement.

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