GROUP TOPIC: Jacob's Syndrome Flashcards

1
Q

-Also known as XYY syndrome
-A genetic condition that occurs when a male has an extra copy of the Y chromosome in each of their cells
-This produces a 47 XYY karyotype, which occurs every 1 in 1,000 male births.
-Most individuals do not exhibit clinical manifestations.

A

Jacob’s Syndrome

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2
Q

Jacob’s Syndrome

-Also known as ____ syndrome
-A genetic condition that occurs when a male has an extra copy of the_____chromosome in each of their cells
-This produces a _____ karyotype, which occurs every 1 in 1,000 male births.
-Most individuals do not exhibit clinical manifestations.

A

Also known as XYY syndrome
A genetic condition that occurs when a male has an extra copy of the Y chromosome in each of their cells
This produces a 47 XYY karyotype, which occurs every 1 in 1,000 male births.
Most individuals do not exhibit clinical manifestations.

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3
Q

Causes

___________-
A result of a random error during sperm or embryo formation.

______-
No genetic predisposition; the extra Y chromosome occurs by chance.

________-
Occurs due to an error in cell division called nondisjunction.
Leads to sperm cells with an extra Y chromosome.
If one of these sperm cells contributes to the child’s genetic makeup, the child will have XYY syndrome.

A

-Random mutation
-Not inherited
-Genetic process of XXY syndrome

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4
Q

PRENATAL DIAGNOSIS

____________– during pregnancy, these procedures can detect chromosomal abnormalities like 47, XYY/

_____________- a blood test done early in pregnancy can screen for the syndrome by analyzing fetal DNA circulating in the mother’s blood.

A

PRENATAL DIAGNOSIS

Amniocentesis or chronic villus sampling (CVS)- during pregnancy, these procedures can detect chromosomal abnormalities like 47, XYY/

Non-invasive prenatal testing (NIPT) - a blood test done early in pregnancy can screen for the syndrome by analyzing fetal DNA circulating in the mother’s blood.

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5
Q

POSTNATAL DIAGNOSIS

_____________ - the definitive diagnostic test for Jacob’s syndrome involves analyzing the chromosomes from a blood sample to identify the presence of the extra Y chromosome.

_______________- - a specialized test that can detect specific chromosome abnormalities, including the extra Y chromosome.

A

POSTNATAL DIAGNOSIS

Karyotype Analysis - the definitive diagnostic test for JAcob’s syndrome involves analyzing the chromosomes from a blood sample to identify the presence of the extra Y chromosome.

FISH - a specialized test that can detect specific chromosome abnormalities, including the extra Y chromosome.

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