CH. 14 Heredity Flashcards

(38 cards)

0
Q

What is the most common error in meiosis?

A

Nondisjunction, which results in abnormal numbers of chromosomes.

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1
Q

Karyotyping

A

An examination of chromosomes of a cell under high magnification. Can help determine if the baby has certain defects or problems caused by additional, missing, or damaged chromosomes

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2
Q

Symptoms of Down syndrome?

A

Flat face, small ears and mouth and broad hands and feet. Most children have lack of muscle tone.

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3
Q

Scientific name of Down syndrome?

A

Trisomy 21

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4
Q

Scientific name of Patau Syndrome?

A

Trisomy 13

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5
Q

Symptoms of Patau Syndrome?

A

Almost half of infants do not survive beyond first month, 3/4 die within 6 months. Severe mental defects and defects of the brain that lead to seizures, apnea, deafness, and ocular abnormalities.

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6
Q

Scientific name of Edwards syndrome?

A

Trisomy 18

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7
Q

Who does Edwards syndrome affect more?

A

Girls. Around three times more.

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8
Q

Symptoms of Edwards syndrome?

A

Abnormalities are associated with the presence of an extra 18 chromosome. Few infants survive beyond first year

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9
Q

What is XXY?

A

Kleinfelters Syndrome

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10
Q

Symptoms of kleinfelters?

A

Sometimes may be sterile, language impairment, and breast development

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11
Q

What is the name for turners syndrome?

A

XO

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12
Q

What is XO?

A

Chromosomal condition that exclusively affects girls and women. Found when two X chromosomes are found missing or incomplete

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13
Q

Physical Symptoms of XO?

A

Short stature. Webbed neck. Arms That turn slightly out elbow, low hairline in the back of the head.

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14
Q

Internal symptoms of XO?

A

Lack of ovarian development, prone to cardiovascular problems, kidney and thyroid problems, skeletal disorders, dislocated hips, and hear and ear disturbances

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15
Q

What is XYY called?

A

Jacobs syndrome

16
Q

What is XYY?

A

When males have 2 Y chromosomes and the constitution 47.

17
Q

Physical symptoms of XYY?

A

Increased height, more active then other boys, delayed mental maturation and increased tendency for learning problems in school?

18
Q

Internal symptoms of XYY?

A

Normal intelligence, normal development, some immature sperm cells. Very fast growth velocity in early childhood.

19
Q

What are the names of XXX?

A

Triplo-x, Trisomy X, XXX Syndrome, and 47 XXX.

20
Q

What is XXX?

A

Rare chromosomal abnormality that affects only women, they have 3 X chromosomes instead of 2.

21
Q

When is there a high risk of XXX?

A

Increased slightly in pregnancies after age 35.

22
Q

Physical symptoms of XXX?

A

Tall stature, small head, vertical skin folds in inner corners of eyes.

23
Q

Internal symptoms of XXX?

A

Delayed development of certain motor skills. Speech and language, dyslexia. Infertility.

24
What is Duchenne muscular Dystrophy?
Sex linked disorder that results in progressive weakening and loss of skeletal muscle. Happens in 1/3000 males
25
What is the name for PKU?
Phenylketonuria
26
What is PKU?
Children Born with this disorder cannot metabolize a protein in food called phenylalanine (PHE)
27
What is CF?
Cystic Fibrosis.
28
What is CF?
The most common, fatal genetic disease in the U.S. about 30k people have the disease.
29
Symptoms of CF?
Causes body to produce sticky mucus that clogs lungs, leads to infection, blocks the pancreas, stops digestive enzymes from reaching the intestine.
30
What does HD stand for?
Huntingtons
31
What is HD?
An inherited neurological illness causing involuntary movements, severe emotional disturbances, cognitive decline. No cure.
32
What is Criduchat?
Cat cry
33
Symptoms of cat cry?
At birth, child had a distinctive high, shrill, mewing, kitten-like, cry during infancy. Low birth weight and failure to grow. Small head, widely spaced eyes, small jaw, mental retardation. Messed up chromosome 5.
34
What is the name of TSD?
Taysachs
35
What is TSD?
Fatal genetic disorder, mostly in children in progressive destruction of nervous system
36
How is TSD caused?
An absence of vital enzyme called hexosaminidase- A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormality in cells, especially in nerve cells
37
Symptoms of TSD?
Normal until 6 months, development slows, seizures, diminishing mental function, gradually regresses, unable to crawl, turn over, sit or reach out, blind, mentally retarded, paralyzed, non-responsive