7- Write the karyotype of the following chromosomal abnormalities according to the nomenclature

1- A 3-year-old man with Down syndrome due to free trisomy 21

2- A stillborn male fetus with trisomy 13 

3- A newborn girl with mosaic trisomy 18, with a normal line

4- A malformed female fetus with triplyodia.

5- A woman with Down syndrome due to translocation between chromosomes 14 and twenty-one

6- A man with mental retardation and microcephaly with terminal deletion of chromosome 10 with a breakpoint at q25. 

7- A girl with Turner syndrome with monosomy X in pure line. 

8- A child with hydrocephalus and cleft lip with a reciprocal translocation between the chromosomes 4 and 18 with breakpoints at p16 and q22. 

9- A healthy woman in whom an investment of a segment of the short arm of chromosome 2 that comprises the bands between 13 and 2. 3. 

10- In a prenatal study, a rearrangement was found in a female fetus chromosomal unbalanced product of a maternal translocation between the chromosomes 5 and 17. The fetus has a chromosome derived from 5 and the points of break are at 5p15.2 and 17q24.

Answer rating: 100% (QA)

El defecto bsico en el SD se relaciona con una distribucin defectuosa de los cromosomas de manera que todos los casos con esta alteracin presentan tres copias del cromosoma 21 trisoma 21 regular llama... View the full answer