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Autosomal Dominant Diseases

A functional alteration in one of the gene couple located on the same locus is enough for the emergence of...

Autosomal Recessive Diseases

Autosomal recessive disorders comprises nearly one third of single gene diseases. For autosomal recessive diseases to be functional, a single...

X-Linked Recessive Diseases

Because the disease is inherited by sex chromosomes ( X chromosome), except for rare cases, diseases are determined only in...

X-Linked Dominant Diseases

Disease can be observed both at boys and girls and the pattern of inheritance resembles the autosomal dominant inheritance. However,...

Chromosomal Disease – Introduction

Chromosomal disorders usually have lethal effect and incidence of occurrence is between 0,5% and 0,7% in alive newborns. These chromosomal...

Numerical Chromosomal Anomalies

Normal human somatic cells include 46 chromosomes. If the number chromosomes is 23 and its multiples, then it cannot be...

Structural Chromosome Abnormalities

The most frequently observed form of chromosomal rearrangements is translocation (reciprocal or robertson translocation) that occurence frequency is 1 out...

Consanguineous Marriage

Consanguineous marriage is the marriage between partners having kinship to each other. Primary consanguineous marriage is defined as a union...

Genetic Counselling – Introduction

Genetic Counselling provides the information not only to those who are at risk group of having or carrying a genetic...

Recurrent Pregnancy Loss

Although it is thought that about 15-20% of pregnancies result in a miscarriage, the ratio is expected higher since women...

"The essence of evolutionary biology is that, just as our genetic material guides us, we also have the potential to guide it."

Richard Dawkins