Question

Mention any two autosomal genetic disorders with their symptoms.

Answer 1

Hint: Autosomal recessive is one of various ways that a trait, disorder, or any disease can be passed down through families or generations. An autosomal recessive disorder refers to two copies of an abnormal gene that must be present in order for the disease or trait to develop.

Complete answer:
Down syndrome is a trisomy-21 that is the presence of chromosome 21 in three copies in generation. The affected individuals are mentally challenged that are mildly to moderately level as well as suffer from congenital heart defects along with a very high (1/100) risk of acute leukemia. They are consider to be short in stature as well as it have a broad, short skull; low-set ears, as well as small mouth, the hyper-flexibility of joints; along with excess skin on the back of the neck, epicanthus skin fold above the eyes and transverse palmar crease.
Down syndrome varies in severity among every individual. It causes lifelong intellectual disability as well as developmental delays. It's the most usual genetic chromosomal disorder along with the cause of learning disabilities in children. It also normally causes other medical abnormalities, including heart and gastrointestinal disorders.

Cri-du-chat Syndrome is characterized by a mewing such as cry of the newborn which is caused due to loss of half of the short arm of chromosome 5 which causes various developmental delays in the newborn. The symptoms of cri du chat syndrome vary among every individual. The variability of the clinical symptoms as well as developmental delays may be related to the size of the deletion of the 5p arm.
The other clinical symptoms of cri du chat syndrome normally consist a high-pitched cat- such as cry, mental retardation, delayed development, distinctive facial features, small head size that is microcephaly, widely-spaced eyes that is hypertelorism, low birth weight as well as weak muscle tone that is hypotonia in infancy. The cat-like cry typically becomes less apparent with time.

Note: A single abnormal gene on one of the primary 22 non sex or known as autosomal chromosomes from either parent can cause an autosomal disorder. Dominant inheritance refers to an abnormal gene from one parent that can cause disease. This happens even when the matching gene from the other parent is normal. The abnormal gene dominates the process.