General Pathology Lecture 5: Cytogenic Disorders & Structural Abnormalities

How many chromosomes are in haploid?

23

How many chromosomes are in diploid?

46

What is the failure of homologous pairs of chromosomes to separate symmetrically during cell division called?

Nondisjunction

What is it called when cells have different numbers of chromosomes?

Aneuploidy

What is the aneuploidy that is missing a chromosome?

Monosomy

What is the aneuploidy that has an extra chromosome?

Trisomy

What is aneuploidy often found with?

Aggressive cancers

What is the pathogenesis of 92 - 95% of Down syndrome cases?

Nondisjunction

What is the extra chromosome in Down syndrome?

Chromosome 21

What are the main CNS symptoms caused by Down Syndrome?

1. Congenital intellectual decline

2. Seizures

What is the mean IQ of Down Syndrome patients by age 1?

70

What is the mean IQ of Down Syndrome patients by age 10?

30

What is the disease that almost every patient of Down Syndrome by age 35 has?

Alzheimers

How does Down Syndrome affect the heart?

Malformations

How does Down Syndrome affect the skeletal system? (2)

1. Short stature

2. Joint hyperextensibility

How does Down Syndrome affect hands? (2)

1. Simian crease

2. Absence of middle phalange in pinkys

How does Down Syndrome affect feet?

Wide sandal gap

What oral disease do 90% of Down Syndrome patients have?

Periodontal disease

How does Down Syndrome affect eyes?

Brushfield spots

How does down syndrome affect male reproductive systems?

Sterile

What is the cancer risk that is increased with Down Syndrome?

Leukemia