Clinical Presentation of Chromosomal Disorders 8/13 Questions and Answers (100 %Score) Latest Updated 2026

Clinical Presentation of Chromosomal Disorders 8/13


1. centromere: constricted portion of a chromosome necessary for proper cell division


2. what is chromatin: chromsomes packaged with histones


3. types of chromosomal abnormalities: numerical


structural
germline
mosaic

4. numerical abnormality: aneuploidy can occur in meiosis or mitosis


5. structural abnormality: translocation


inversion
deletion/duplication

6. germline abnormalities: present in all cells and present from conception


7. mosaic abnormalities: -may be in all or only some


-some contain it while others dont (cells)
- blood test isnt necessarily reflective because it may be in other tissues
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, 8. chromosomal testing: karyotype


FISH

SNP microarray

9. karyotype: cells are arrested in metaphase and stained


10. most common autosomal conditions: trisonomy 21, 18, 13


11. most common sex chromosome conditions: Turner (45X) and Klinefelter (47 XXY), XYY, XXX


12. why is it survivable for trisonomy of those chromosomes: they are smaller/hold less


genes

13. Trisomy 21: 1:700 live births


most common chromosomal disorder

multiple organ malformations
intellectual disability

14. recognizeable features of trisomy 21: flat facial profile


epicanthal folds (extra skin in eyes)

brushfield spots (dots surrounding iris)

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