Citogenética

Genetics of male infertility

Breda Genetics panel recommended for this condition: Pan73 – Male infertility (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1,

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Unraveling uniparental disomy

Chromosomes from one parent only: this is uniparental disomy (UPD)! Normally, every human has 22 pairs of chromosomes (called homologous chromosomes or homologs or autosomes) plus one couple of sexual chromosomes (which are two X chromosomes in females and one chromosome X plus one chromosome Y in males). For normal development, we need that, for

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Robertsonian translocations: what to do?

Robertsonian translocations: what are they? Robertsonian translocations are chromosomal rearrangements involving two acrocentric chromosomes. Robertsonian translocations are actually the most frequent chromosomal rearrangements in humans, showing an incidence of 1 in 1,000. A difference between Robertsonian translocations and balanced translocations is that people with a Robertsonian translocation have 45 chromosomes instead of 46. The translocation

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Balanced translocations: what to do?

Balanced reciprocal translocation: what to do? A balanced reciprocal translocation consists of reciprocal material exchange between two non-homologous chromosomes. Usually, balanced reciprocal translocations can be diagnosed by karyotype analysis (an example of translocation name within a karyotype report could be: 46,XX,t(12:18)(p12;q12.3), which stays for female karyotype with an apparently balanced translocation between chromosomes 12 and

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