Module 3 Human Sex anomalies and Inborn Errors in Metabolism Flashcards
(47,XXX)
* incidence: 1 in 1000 female births
* above average stature
* normal phenotype
* most have learning disabilities
* behavior problems common
* many never diagnosed
Trisomy X
(47,XXY)
* 1:1000 male births
* tall stature
* gynecomastia
* hypogonadism
* infertility
* learning disabilities
* problems with socialization
* many never diagnosed
Klinefelter Syndrome
(47, XYY)
* 1/1000 newborn males
* tall stature
* most phenotypically normal
* normal IQ but 50% have learning disabilities (language and speech)
* many never diagnosed
Jacob Syndrome
results when one normal X chromosome is present in a female’s cells and the other sex chromosome is missing or structurally altered
Turner syndrome
– due to errors in cell division during early fetal development;
chromosomal change in only some of the cells
Mosaicism
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
Phenylketonuria (PKU)
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
Maple Syrup Urine Disease
(MSUD)
- 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.
Classic galactosemia (GALT deficiency)
e is due to lactase deficiency.
Lactose intolerance