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genetics

Genetics is an integral part of modern medicine, which explains and studies the possibilities of diagnosing and treating many diseases. Genetics is focused on the study of genetic diseases not only of an individual, but also of his entire family. 

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1p36 deletion syndrome | What we need to know
1p36 deletion syndrome | What we need to know

1p36 deletion syndrome is a chromosomal disorder that usually causes severe mental retardation. People with the syndrome...

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XXYY syndrome What we need to know

XXYY syndrome is a sex chromosome abnormality in which males have an extra X and Y chromosome. XXYY …

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Aplastic anemia What we need to know
Aplastic anemia What we need to know

Aplastic anemia is a rare and very serious blood disorder. It is caused by bone marrow damage, which...

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Autosomal recessive polycystic kidney syndrome (ARPKD). What we need to know
Autosomal recessive polycystic kidney syndrome (ARPKD). What we need to know

A cyst is a formation filled with liquid. It comes in different sizes and appears in different areas of the body. The term "Poly" is used by many...

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Galactosemia What we need to know
Galactosemia What we need to know

Galactose is a sugar found in milk (including breast milk). Galactosemia is a rare genetic disease that...

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Down's syndrome What we need to know
Down's syndrome What we need to know

  Down's syndrome is associated with the presence of an extra chromosome in the 21st pair of chromosomes. A normal person has 46 chromosomes...

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DiGeorge's syndrome What we need to know
DiGeorge's syndrome What we need to know

DiGeorge syndrome is a chromosomal mutation that often has no genetic character. Girls and boys with DiGeorge syndrome...

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Edwards syndrome What we need to know
Edwards syndrome What we need to know

  Edwards syndrome is a hereditary disease caused by trisomy of the 18th chromosome and is manifested by multiple organ malformations. …

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Thalassemia What we need to know
Thalassemia What we need to know

Thalassemia belongs to the group of hereditary hemolytic anemias. Hemolytic anemias are a large group of diseases that differ from each other in reasons, clinical...

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Jacobs syndrome (XYY) | What we need to know
Jacobs syndrome (XYY) | What we need to know

Human karyotype (set of chromosomes) consists of 23 pairs, or 46 chromosomes. 22 pairs of chromosomes - autosomal, ...

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Klinefelter's syndrome What we need to know
Klinefelter's syndrome What we need to know

Klinefelter syndrome is a chromosomal disorder characterized by the presence of an extra X chromosome in males. This is due to meiosis...

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Lactose intolerance What we need to know
Lactose intolerance What we need to know

Lactose is milk sugar, which is transformed with the participation of specific enzymes. Intolerance develops when lactose conversion processes are disturbed. …

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Sickle cell anemia What we need to know
Sickle cell anemia What we need to know

Sickle cell anemia is a hereditary disease in which the red blood cells have a sickle (crescent) shape and their...

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Sweating and its relationship with genetic factors What we need to know
Sweating and its relationship with genetic factors What we need to know

Sweating is a physiological process that begins for various reasons in response to an increase in body temperature. It serves to self-cool the body...

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Patau's syndrome What we need to know
Patau's syndrome What we need to know

  Patau syndrome is a genetic/chromosomal disorder caused by an abnormality of chromosome 13 in some or all of the body's cells.

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Pernicious (B12 deficiency) anemia What we need to know
Pernicious (B12 deficiency) anemia What we need to know

  Same as: Biermer's Disease Pernicious anemia is a condition developed as a result of vitamin B12 deficiency. …

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Triple X syndrome | What we need to know
Triple X syndrome | What we need to know

Triple X syndrome (trisomy X) is a rare disease in which female babies are born with three X...

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Triple X chromosome syndrome | What we need to know
Triple X chromosome syndrome | What we need to know

X chromosome trisomy (or triple X chromosome syndrome, or 47XXX) is a genetic disorder. It belongs to aneuploidy...

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Smith-Magen syndrome (SMS). What we need to know
Smith-Magen syndrome (SMS). What we need to know

Smith-Magen syndrome is a chromosomal disorder, a complex developmental disorder that affects multiple organ systems in the body. Violation...

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Turner's syndrome What we need to know
Turner's syndrome What we need to know

Turner's syndrome is a hereditary disease accompanied by severe hypoplasia of the ovaries and internal genital organs, ...

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Phenylketonuria What we need to know
Phenylketonuria What we need to know

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called phenylketonuria (PKU), is a rare inherited disease that causes the body to produce an amino acid...

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fructose What we need to know
fructose What we need to know

Fructosuria is a condition developed as a result of disruption of fructose metabolism, when the concentration of fructose in the urine and blood increases. this …

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Cystic fibrosis What we need to know
Cystic fibrosis What we need to know

Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat...

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Jacobs syndrome What we need to know
Jacobs syndrome What we need to know

Most people have 46 chromosomes in each cell. In males, this usually involves one X chromosome and...

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Hypochromic anemia What we need to know
Hypochromic anemia What we need to know

Anemia is defined as a decrease in the number of red blood cells in the circulating blood. It is a widespread pathology in the population. …

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