CORRECT AND 100% CORRECT AND WELL
DETAILED ANSWERS|LATEST 2025/2026|GRADED
Chromosomes - ANSWER • Each chromosome has a strand of DNA
• Human cells have 23 pairs
-22 are autosomes; are same in males/females
-Sex chromosomes differ between males/females
Karyotype - ANSWER picture of chromosomes lined up in pairs
Genetic red flags from history - ANSWER -Indicate potential for genetic risk
-Rule of Too/Two:
-Too many of something
-Two people/events occur
-Multiple affected members with same disorder
-Earlier age at onset than expected for disorder
-Condition/disorder in less-often affected sex
-Appearance of disease in absence of known risk factors
-Ethnicity or ancestral background
-Consanguinity
-Intellectual impairment
• Physical findings indicating genetic disorders - ANSWER -Physical abnormalities
-Café au lait spots
-Growth problems
-Congenital anomalies
-Neurological abnormalities
1
, -Hearing/vision loss
-Developmental delay
-MR
-Seizures
-Malformations (birth defects)
-Deformities
-Dysplasia
-Syndrome
Newborn screening - ANSWER National Recommended Universal Screening Panel
(RUSP) - 31 core/26 secondary conditions for screening
Monogenetic - ANSWER Occur when mutations affect a single gene
• Sickle Cell Disease • Hemophilia and von Willebrand Disease • Marfan Syndrome •
Fragile X Syndrome • Duchene Muscular Dystrophy
Chromosomal defects - ANSWER • Trisomey 21 (Down's) Syndrome
• Prader Willi Syndrome
• Turner Syndrome
Mosaicism - ANSWER altered changes in some cells
Sickle Cell Disease (SCD) - ANSWER • Includes HbAS (trait) and HbSS (anemia);
HbSC; Thalassemias
• Most common hemoglobinopathy in US
• Auto recessive, abnormal crescent shaped RBCs
• Clinical hallmarks- vasoocclusive and hemolysis
2
DETAILED ANSWERS|LATEST 2025/2026|GRADED
Chromosomes - ANSWER • Each chromosome has a strand of DNA
• Human cells have 23 pairs
-22 are autosomes; are same in males/females
-Sex chromosomes differ between males/females
Karyotype - ANSWER picture of chromosomes lined up in pairs
Genetic red flags from history - ANSWER -Indicate potential for genetic risk
-Rule of Too/Two:
-Too many of something
-Two people/events occur
-Multiple affected members with same disorder
-Earlier age at onset than expected for disorder
-Condition/disorder in less-often affected sex
-Appearance of disease in absence of known risk factors
-Ethnicity or ancestral background
-Consanguinity
-Intellectual impairment
• Physical findings indicating genetic disorders - ANSWER -Physical abnormalities
-Café au lait spots
-Growth problems
-Congenital anomalies
-Neurological abnormalities
1
, -Hearing/vision loss
-Developmental delay
-MR
-Seizures
-Malformations (birth defects)
-Deformities
-Dysplasia
-Syndrome
Newborn screening - ANSWER National Recommended Universal Screening Panel
(RUSP) - 31 core/26 secondary conditions for screening
Monogenetic - ANSWER Occur when mutations affect a single gene
• Sickle Cell Disease • Hemophilia and von Willebrand Disease • Marfan Syndrome •
Fragile X Syndrome • Duchene Muscular Dystrophy
Chromosomal defects - ANSWER • Trisomey 21 (Down's) Syndrome
• Prader Willi Syndrome
• Turner Syndrome
Mosaicism - ANSWER altered changes in some cells
Sickle Cell Disease (SCD) - ANSWER • Includes HbAS (trait) and HbSS (anemia);
HbSC; Thalassemias
• Most common hemoglobinopathy in US
• Auto recessive, abnormal crescent shaped RBCs
• Clinical hallmarks- vasoocclusive and hemolysis
2
