ATI RN
Pediatric Genetics Questions
Question 1 of 5
The practical way to visualize a karyotype of a suspected very large chromosomal deletion, is to:
Correct Answer: B
Rationale: Metaphase (B) is ideal for karyotyping as chromosomes are condensed and aligned, allowing visualization of deletions. Rationale: Colcemid arrests cells in metaphase, enabling clear banding and structural analysis, unlike anaphase (separating) or S phase (replicating).
Question 2 of 5
A patient with Klinefelter syndrome can be seen as:
Correct Answer: A
Rationale: Klinefelter is 47, XXY male (A). Rationale: Extra X causes male infertility, tall stature, etc. Females cannot be XXY (SRY on Y); 45, X is Turner syndrome (female).
Question 3 of 5
A child person with clinical features that include: cardiovascular, brain with neurological, renal, gastrointestinal, respiratory, and skeletal malformations, craniofacial abnormalities such as prominent occiput, hand and feet anomalies including clenched hand. This patient is most probably affected with:
Correct Answer: A
Rationale: Trisomy 18 (Edwards syndrome, A) fits. Rationale: Clenched hands, multiple organ defects, and craniofacial issues (e.g., prominent occiput) are hallmark Edwards features. Down (B, D) lacks these specifics; Turner (C) differs (e.g., lymphedema).
Question 4 of 5
The chromatin in interphase and in M phase
Correct Answer: C
Rationale: Chromatin is decondensed in interphase (for gene expression) and condensed in M phase (mitosis, for segregation). 'C' (Decondensed, Condensed) is correct. Rationale: Interphase chromatin is diffuse to allow transcription, while M phase (prophase to metaphase) condenses chromosomes into visible, compact structures for division.
Question 5 of 5
Law of segregation related to and law of independent assortment related to
Correct Answer: B
Rationale: Segregation involves homologous chromosomes separating; independent assortment involves different chromosomes assorting independently. 'B' is correct. Rationale: Mendel’s laws: segregation (alleles on homologs split in meiosis I), assortment (non-homologous chromosomes align randomly).