A detailed explanation of Down syndrome and its corresponding clinical features.

This is a genetic form of rickets

Fetal chromosome abnormalities are a type of genetic disorder, usually caused by abnormalities in genetic genes.

Galactosemia is a genetic, recessive inheritance and metabolic disorder.

Klinefelter syndrome (XYY chromosome syndrome) is a chromosomal abnormality disorder characterized by an extra Y chromosome.

What is the genetic form of phenylketonuria?

What is the probability of a couple with chromosomal abnormality 46, XX, (1qh) giving birth to a healthy child?

Trisomy 21 syndrome is a disease caused by chromosomal structural abnormalities, with a karyotype of 47, XX(XY), 21.

Trisomy 21, also known as Down syndrome, is a genetic disorder characterized by an extra copy of the 21st chromosome, resulting in individuals with three copies of chromosome 21 instead of the normal two. This condition leads to a range of physiological and developmental issues, including intellectual disability, distinctive facial features, structural abnormalities, and immune system defects.

Turner Syndrome is a congenital chromosomal abnormality disease characterized by short stature, underdeveloped sexual characteristics, and infertility. Although there is no current method to promote ovarian development or restore fertility, treatment can improve height and stimulate the development of secondary sexual characteristics.