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.

Title	Summary	Learn more
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...	Learn more
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 …	Learn more
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...	Learn more
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...	Learn more
Galactosemia What we need to know	Galactose is a sugar found in milk (including breast milk). Galactosemia is a rare genetic disease that...	Learn more
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...	Learn more
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...	Learn more
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. …	Learn more
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...	Learn more
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, ...	Learn more
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...	Learn more
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. …	Learn more
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...	Learn more
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.	Learn more
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. …	Learn more
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...	Learn more
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...	Learn more
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...	Learn more
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, ...	Learn more
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...	Learn more
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 …	Learn more
Cystic fibrosis What we need to know	Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat...	Learn more
Jacobs syndrome What we need to know	Most people have 46 chromosomes in each cell. In males, this usually involves one X chromosome and...	Learn more