Chromosomal Diseases (Ch. 6; Exam 2) Flashcards
Down syndrome is a genetic condition where a person has an extra copy of chromosome ____, meaning they have
____ copies of this chromosome instead of the usual ____, which is why it’s also called “____ ____.”
21; 3; 2; Trisomy 21
Down syndrome causes a distinct ____ appearance, ____ disability, ____ ____, and may be associated with ____ or ____ disease.
Facial; Intellectual; Developmental delays; Thyroid; Heart
Down syndrome is designated “____, ____.”
47, 21+
Of the ____ to ____ characteristic traits of Down syndrome, most individuals (on average) express ____ to ____.
12 to 14; 6 to 8
Facial resemblance among those with Down syndrome is partially due to a prominent ____ fold in each eye and the typically flat face and round head.
Epicanthic
Turner syndrome is a ____-____ genetic disorder. A girl with Turner syndrome has ____ normal ____ sex chromosome, rather than the usual ____.
Female-only; 1; X; 2
About half of people with Turner
syndrome have ____ ____, which means they have only one X chromosome in each cell. The other half of people with Turner syndrome have ____, which means some cells have ____ chromosomes and some have ____.
Monosomy X; X; Mosaicism; 2; 1
Turner syndrome is not linked to the ____ ____.
Mother’s age
Turner syndrome is caused by an error that occurs during the formation of an ____ or ____.
Egg; Sperm
The loss of genes on the X chromosome leads to the symptoms of Turner syndrome. Symptoms of Turner syndrome include: ____ stature, delayed ____, ____, ____ defects, ____ disabilities, ____ hands and feet at birth, a ____ neck with ____, and others.
Short; Delayed puberty; Infertility; Heart defects; Learning disabilities; Puffy hands and feet at birth; A wide neck with webbing
Turner syndrome is designated “____, ____.”
45, X
A person with Klinefelter syndrome has ____ chromosomes, meaning they have an extra ____ chromosome compared to the typical male karyotype (____).
47; X; XY
Children with Klinefelter syndrome may have low ____ ____ (____), difficulty ____ ____, and ____ delays of certain ____ skills, such
as rolling over or walking.
Low muscle tone (hypotonia); Difficulty coordinating movements; Mild; Developmental
Klinefelter syndrome: Affected children have an increased risk of mild delays in ____ and ____ development.
Speech and language
People with Klinefelter syndrome tend to have better ____ language skills (the ability to understand speech) than ____ language skills (vocabulary and the production of speech) and may have difficulty ____ and expressing themselves.
Receptive; Expressive; Communicating
