Abstract Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development has expanded to other genetic conditions such sex chromosome anomalies (SCAs), rare autosomal trisomies (RATs), microdeletions/microduplicatio...

Theory suggests that genetic conflicts drive turnovers between sex-determining mechanisms, yet these studies only apply to cases where sex allocation is independent of environment or condition. Here, we model parent-offspring conflict in the presence of condition-dependent sex allocation, where the environment has sex-specific fitness consequences. Additionally, one sex is assumed to be more co...

OBJECTIVE Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. MATERIALS AND METHODS In this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...

Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics. But they also occur as combinations of both types as in unstable rearrangements or in chaotic karyotypes of early stages of embryonic development. Depending on the indication for chromosome analysis—child with developmental retardat...

Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.

In mammals, the primary step in male sex determination is the initiation of testis development which depends on the expression of the Y-linked testis determining gene, Sry. The mechanisms by which Sry controls this process are unknown. Studies showed that cell migration from the adjacent mesonephros only occurs into XY gonads; however, it was not known whether this effect depended on Sry, anoth...

The role of sex chromosomes in sex determination has been well studied in diverse groups of organisms. However, the role of the genes on the sex chromosomes in conferring sexual dimorphism is still being experimentally evaluated. An unequal complement of sex chromosomes between two sexes makes them amenable to sex-specific evolutionary forces. Sex-linked genes preferentially expressed in one se...

Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics. But they also occur as combinations of both types as in unstable rearrangements or in chaotic karyotypes of early stages of embryonic development. Depending on the indication for chromosome analysis—child with developmental retardat...

Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics. But they also occur as combinations of both types as in unstable rearrangements or in chaotic karyotypes of early stages of embryonic development. Depending on the indication for chromosome analysis—child with developmental retardat...