Module 3 Human Sex anomalies and Inborn Errors in Metabolism Flashcards

1
Q

(47,XXX)
* incidence: 1 in 1000 female births
* above average stature
* normal phenotype
* most have learning disabilities
* behavior problems common
* many never diagnosed

A

Trisomy X

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2
Q

(47,XXY)
* 1:1000 male births
* tall stature
* gynecomastia
* hypogonadism
* infertility
* learning disabilities
* problems with socialization
* many never diagnosed

A

Klinefelter Syndrome

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3
Q

(47, XYY)
* 1/1000 newborn males
* tall stature
* most phenotypically normal
* normal IQ but 50% have learning disabilities (language and speech)
* many never diagnosed

A

Jacob Syndrome

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4
Q

results when one normal X chromosome is present in a female’s cells and the other sex chromosome is missing or structurally altered

A

Turner syndrome

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5
Q

– due to errors in cell division during early fetal development;
chromosomal change in only some of the cells

A

Mosaicism

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6
Q

is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.

PAH gene

A

Phenylketonuria (PKU)

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7
Q

is an autosomal recessive inherited disorder in which the body is unable to process certain protein building blocks (amino acids)
properly.

BCKDHA gene, BCKDHB gene, DBT gene

A

Maple Syrup Urine Disease
(MSUD)

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8
Q
  • Galactose-1-phosphate uridyl transferase (GALT) is either missing or not working properly.
  • also known as type I, is the most common and most severe form of the condition.
A

Classic galactosemia (GALT deficiency)

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9
Q

e is due to lactase deficiency.

A

Lactose intolerance

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