Mention any two autosomal genetic disorders with their symptoms.
Down syndrome is trisomy-21 i.e. presence of chromosome 21 in three copies. The affected individuals are mentally challenged (mildly to moderately) and suffer from congenital heart defects with a very high (1/100) risk of acute leukemia. They are short in stature and have a broad, short skull; low-set ears, small mouth, the hyper-flexibility of joints; and excess skin on the back of the neck, epicanthus skin fold above the eyes and transverse palmar crease.
Cri-du-chat Syndrome characterized by mewing like cry of the newborn which is caused by loss of half of the short arm of chromosome 5 causes a severe developmental delay in newborn.
Pick out the correct statements. (a) Haemophilia is a sex-linked recessive disease. (b) Down's syndrome is due to aneuploidy. (c) Phenylketonuria is an autosomal recessive gene disorder. (d) Sickle cell anaemia is an X-linked recessive gene disorder.
The genotypes of a Husband and Wife are $$I^AI^B$$ and $$I^Ai$$. Among the blood types of their children, how many different genotypes and phenotypes are possible?
A disease caused by an autosomal primary non-disjunction is
The structure in chromatin seen as beads-on string when viewed under electron microscope are called _______________.
Gynaecomastia is a common feature seen in
Choose the correct answer from the alternatives given. Match column I with column II and select the correct option from the given codes. Column I Column II A. Normal woman (i) 14 B. Klinefelters syndrome (ii) 45 C. Turners syndrome (iii) 46 D. Pisum sativum (iv) 47
Choose the correct answer from the alternatives given. Match column I with column II and select the correct option from the given codes. Column I Column II A. Turners syndrome (i) Trisomy B. Linkage (ii) AA + XO C. V-chromosome (iii) Morgan D. Downs syndrome (iv) TDF
Choose the correct answer from the alternatives given. Match column I with column II and select the correct option from the given codes. Column I Column II A. Chromosomal aberration (i) An additional sex chromosome B. Downs syndrome (ii) Inversion C. Klinefelters syndrome (iii) Presence of an extra chromosome D. Turners syndrome (iv) Absence of sex chromosome
Which of the following is not an example of recessive autosomal disease?
Mongolism is a genetic disorder which is caused by the presence of an extra chromosome number