Human Genetics Notes
This article examines only the basic features of the human genome; for genetic problems please refer to medical genetics.
Human genetics disorder-
- Chromosomal
- Mendelian disorder
Chromosomal disorder
Can be caused by one chromosome or by more than one chromosome
If it is non-accessible then it is very difficult to understand whether it will go to the next generation or not.
Chromosomal disorder-
- Autosomal Abnormalities
- Sex Chromosomal Abnormalities
Autosomal Abnormalities-
- Down Syndrome
- Edward Syndrome
- Patau Syndrome
- Cat Cry Syndrome
- Myelogenous Leukemia
- Down Syndrome
Down Syndrome
Down syndrome was first given by the lame Down in 1866.
Chromosome no. If there is a ratio of 21, that is, if the chromosome is being expressed, then there can be a problem.
If a female is pregnant after the age of 30, the child may have a chromosome disorder.
Symptoms
- The forehead will be too wide
- The open mouth of the child
- Tongue is out
- Small neck
- Lip forward and
- Round Face and Small Finger.
Edward Syndrome
Edward's syndrome was given by the scientist Edward Salt in 1960.
tertiary chromosome no.18.
Symptoms
- A child affected by Edward's syndrome has a closed finger
- Small ears, small mouth, small finger
- Edward's syndrome to the affected child of life around 6 months.
Patau Syndrome
Patau syndrome was given by Patau in 1960.
Patau syndrome chromosome no. is caused by the tertiary of 13.
Symptoms
- Small head and abnormalities of the face, eye, and forebrain
- Cleft lip and palette
- Ears small
- Clenched hand.
Cat- Cry Syndrome
- The affected child cries like a cat
- Cat-cry syndrome chromosome no. 5 is related.
- Symptoms
- Small head with widely spaced eyes
- Moon-like face
- Heart-related disease
Myelogenous leukemia
Deletion of some portion of the long arm of chromosome no. 22 and its addition to chromosome no. 9
Philadelphia chromosome as it began to be rebuilt in the city of Philadelphia in 1959.
Symptoms
Sex Chromosomal Abnormalities
- Turner Syndrome
- Klinefelter Syndrome
- Superfemale
- Supermale
Turner Syndrome
It is due to monosomy
Symptoms
- Webbed neck and abnormal intelligence
- Cardiovascular paralysis and hearing loss
Klinefelter Syndrome
It is due to trisomy of the sexual chromosome
It is made up of a combination of an unusual xx egg and a common y-sperm
Man has 47 chromos4768ome (44+ xxy)
Symptoms
- The delay will be more than necessary
- Mantle defect
- Long lymph nodes
Superfemale(poly X female syndrome
Individual have 47(44+XXX), 48 (44+XXXX) or 49 (44+XXXXX)
These females are characterised by abnormal sexual development and mental retardation
Supermale (poly Y male syndrome)
It is also known as Jacob syndrome
Individuals have 47 (44+XXY) chromosome
