Chromosomal disorders — Flashcards

Flashcard 1: What pathology is characterized by inappropriate laughter, seizures, ataxia, and severe intellectual disability?_____

Answer: Angelman syndrome

Flashcard 2: Is Gastroschisis associated with chromosomal abnormalities?_____

Answer: No

Flashcard 3: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann

Flashcard 4: Which sex chromosome disorder is associated with short stature, shield chest, and webbed neck in a female? _____

Answer: Turner syndrome

Flashcard 5: What is the most common congenital male reproductive abnormality?_____

Answer: Cryptorchidism

Flashcard 6: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth

Answer: 1

Flashcard 7: What is the second most common cause of genetic intellectual disability? _____

Answer: Fragile X syndrome (#1 is Down syndrome)

Flashcard 8: iodide (lack)

Answer: congenital goiter

Flashcard 9: iodide (excess)

Answer: congenital hypothyroidism

Flashcard 10: What are the most common teratogenic effects of fetal exposure to high-dose X-rays?

Answer: Microcephaly and intellectual disability (mental retardation) in the fetus.

Extra: Ionizing radiation is a known teratogen. The CNS is most sensitive to radiation-induced damage between weeks 8 and 15 of gestation. Other potential effects include growth restriction and eye abnormalities.