Chromosome Abnormalities

Front 1

What is the most common sex chromosome abnormality?

Back 1

Klinefelter Syndrome

Front 2

Incidence of Klinefelter Syndrome?

Back 2

1 in 600 male births

Front 3

What is the leading cause of male infertility?

Back 3

Klinefelter Syndrome

Front 4

Karyotype associated with Klinefelter Syndrome?

Back 4

47,XXY most often

Front 5

Describe growth in boys with Klinefelter Syndrome

Back 5

normal ht, wt, hc but height velocity increases as approaching school age. Usually 80th percentile for height or more and have relatively long arms and legs.

Front 6

What developmental difficulties do boys with Klinefelter Syndrome have?

Back 6

May have mildly delayed motor and language development, mildly low muscle tone, difficulty with verbal and reading skills

Front 7

Typical personality traits of boys with Klinefelter Syndrome?

Back 7

shy, sedentary, often suffer from poor self-esteem. They frequently display immature behaviors compared with their same-age peers.

Front 8

What happens to boys who have KS at puberty?

Back 8

the testes fail to enlarge as expected. Approximately 15% develop gynecomastia, and there may be reduced facial, axillary, and pubic hair compared with the average.

Front 9

diagnosis of Klinefeltr’s syndrome?

Back 9

Karyotype

Front 10

For What malignancies are boys with at increased risk?

Back 10

About 3% risk of breast cancer in adulthood; 1% risk of primary mediastinal germ cell tumors

Front 11

Head shape in Marfan syndrome?

Back 11

Dolichocephaly

Front 12

Skeletal anomalies associated with Marfan Syndrome?

Back 12

Arachnodactyly

Front 13

What evaluations are necessary when suspecting Marfan syndrome?

Back 13

echocardiography and ophthalmology evaluations

Front 14

management of individuals who have KS?

Back 14

evaluation for testosterone deficiency; Baseline testosterone, follicle-stimulating hormone, and leuteinizing hormone levels should be measured at 12 to 13 years of age or when the diagnosis initially is made (if later).