Exam 5: Genetic and Developmental Diseases

Which of the following defects associated with TORCH can cause problems in the third trimester?

Cystic fibrosis may present in newborns with signs of:

Congenital rubella occurs only in which of the following situations?

The most important complication encountered in persons affected by familial hypercholesterolemia is:

Which of the following is a basic feature of autosomal dominant traits?

Children born with a small cranium and jaw,a thin upper lip,and palpebral abnormalities,and have a lower than normal IQ demonstrate classic signs of:

Symptoms including a wide face with low-bridged nose,closely set slanted eyes,a large tongue,short arms and legs,and low IQ are associated with:

Trisomy of chromosome 21 is typical of:

Children born with a fragile X chromosome suffer from:

All of the following are routinely used in prenatal diagnosis except:

Most congenital malformations in humans are:

The agents that cause fetal abnormalities are called:

Sudden infant death syndrome typically occurs:

A multifactorial developmental defect that occurs because of dysraphic anomaly is known as:

Dilation of lateral ventricles of the brain found in TORCH syndrome is called:

Which congenital deficiency occurs when an inborn error of protein metabolism causes the inability to metabolize phenylalanine into tyrosine?

The most important intracranial complication of neonatal respiratory syndrome is:

The X-linked bleeding disorder caused by a deficiency of factor VIII is called:

A tall,slightly effeminate male with eunuchoid body proportions and gynecomastia is found to have a 47,XXY karyotype.This presentation is typical of:

All of the following are considered possible causes of TORCH syndrome except: