What is Down’s syndrome ? Give its symptoms and cause. Why is it that the chances of having a child with Down’s syndrome increases if the age of the mother exceeds forty years ?
Down's syndrome is a human genetic disorder caused due to trisomy of chromosome no. $21$ . Such individuals are aneuploid and have $47$ chromosomes $(2 \mathrm{n}+1)$. The symptoms include mental retardation, growth abnormalities, constantly open mouth, dwarfness etc. The reason for the disorder is the non-disjunction (failure to separate) of homologous chromosome of pair $21$ during meiotic division in the ovum. The chances of having a child with Down's syndrome increase with the age of the mother $(+40)$ because ova are present in females. Since their birth and therefore older cells are more prone to chromosomal non-disjunction because of various physico-chemical exposures during the mother's life-time.
In which disorder $XXY$ karyotype is present ?
Match the following:
Column – I | Column $- II$ |
$(1)$ Failure of cytokinesis | $(p)$ To study in beritance of particular traits |
$(2)$ Trisomy of 21 | $(q)$ Polyploidy |
$(3)$ Error of metabolism | $(r)$ Down's syndrome |
$(4)$ Pedigree analysis | $(s)$ Phenylketonuria |
Down’s syndrome is caused by an extra copy of chromosome number $21$. What percentage of offspring produced by an affected mother and a normal father would be affected by this disorder
Identify the disease on basis of following characters.
$(1)$ Short statured with small round head.
$(2)$ Furrowed tongue and partially open month.
$(3)$ Palm is broad with characteristic palm crease.
In man, which of the following genotypes and phenotypes may be the correct result of aneuploidy in sex chromosomes