Quarter 1 Week 7 [School-based] Flashcards by Zia Cabrera

________ controls what happens in the body whether physiologically or emotionally

chromosomes

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when meiosis has error,it results to ___________

genetic disorder

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happens when a mutation affect your genes or there have been an error during meiosis which have caused your cells to contain the wrong genetic structure or amount

genetic disorder

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because of ________, error happens in meiosis

gene mutation

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genetic disorder is when someone :

received the wrong genetic structure
received wrong amount of gene structure

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affects pair 1-22

autosome-related genetic disorders

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symptoms manifest in physical or emotional characteristics

autosome-related genetic disorders

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affects chromosome 1-44

autosome-related genetic disorder

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autosome-related genetic disorder

trisomy 21 or Down’s Syndrome
trisomy 18 or Edward’s Syndrome
trisomy 13 or Patau’s Syndrome
Deletion 5 or Cat’s Cry Syndrome
Deletion 15 or Angel Man Syndrome

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also known as Down’s Syndrome

Trisomy 21

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the 21st chromosome triplicates

trisomy 21 or Down’s Syndrome

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they are often called “mongoloyd” but this is actually an asian race

Trisomy 21 or Down’s Syndrome

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most common genetic disorder

Trisomy 21 or Down’s Syndrome

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rate of occurence is 1 in every 700 babies

Trisomy 21 or Down’s Syndrome

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flattened face especially at the nose bridge

Trisomy 21 or Down’s Syndrome

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almond-shaped eyes that slant up

Trisomy 21 or Down’s Syndrome

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short neck

Trisomy 21 or Down’s Syndrome

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most common symptom of Trisomy 21 or Down’s Syndrome

single palmar crease….they don’t have a fingerprint
generally shorter in height

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Trisomy 18 is also called

Trisomy 18 or Edward’s Syndrome

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triplication of autosomal pair 18

Trisomy 18 or Edward’s Syndrome

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1 in every 6,000 babies

Trisomy 18 or Edward’s Syndrome

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they suffer from intrauterine growth retardation

Trisomy 18 or Edward’s Syndrome

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they’re shorter in height because they suffer from this; they didn’t grow inside the uterus of their mother, what do you call this case?

intrauterine growth retardation

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because they don’t grow properly, several organs are affected such as HEART and LUNGS

Trisomy 18 or Edward’s Syndrome

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people with Trisomy 18 or Edward's Syndrome die early mainly due to:

- collapsing of lungs - cardiac arrest

main symptom of Trisomy 18 or Edward's Syndrome

overlapping of fingers or clinched fist

abnormally shaped head

Trisomy 18 or Edward's Syndrome

trisomy 13 is also called

Patau's Syndrome

13th pair of chromosome triplicates

Trisomy 13 or Patau's Syndrome

1 in every 16,000 babies

Trisomy 13 or Patau's Syndrome

they suffer from microphthalmia or having eyeballs that are relatively smaller

Trisomy 13 or Patau's Syndrome

has a cleft lip which affects communication and language

Trisomy 13 or Patau's Syndrome

people with trisomy 13 (Patau's Syndrome) have this which affects communication and language

cleft lip

they have a cleft palate which has a split in the soft palate

Trisomy 13 or Patau's Syndrome

suffers from hypotonia which is the weakening of muscles because it is smaller than normal

Trisomy 13 or Patau's Syndrome

the weakening of muscles because of it being smaller than normal

hypotonia

Deletion 5 is also called _________

Cat's Cry Syndrome

deletion in the 5th chromosome which happens in the pachytene stage or recombination/crossing over

Deletion 5 or Cat's Cry Syndrome

1 in every 50,000 babies

Deletion 5 or Cat's Cry Syndrome

Deletion 5 or Cat's Cry Syndrome is also known as

Cri-du-chat syndrome

main manifestation of people with Deletion 5 or Cat's Cry Syndrome

Cri-du-chat syndrome or crying and sounding like a cat with high pitched sounds

their head is small (microcephaly)

Deletion 5 or Cat's Cry Syndrome

people with Deletion 5 or Cat's Cry Syndrome have a smaller head because of

microcephaly

suffers from hypotonia in autosome-related disorders

Trisomy 13 or Patau's Syndrome and Deletion 5 or Cat's Cry Syndrome

deletion on the pachytene stage on the 15th chromosome

Deletion 15 or Angel Man Syndrome

Deletion 15 is also called

Angel Man Syndrome

1 in every 20,000 newborn

Deletion 15 or Angel Man Syndrome

they have deelopmental delays (they develop but just delayed)

Deletion 15 or Angel Man Syndrome

no to minimal speech capacity

Deletion 15 or Angel Man Syndrome

main maifestation of people with Deletion 15 or Angel Man Syndrome

frequent smiling and laughter (because of increased happy hormone: serotonin, dopamine, endorphin, oxytocin)

they are insomniac because of abnormally high happy hormones

Deletion 15 or Angel Man Syndrome

affects chromosomes responsible for sex identification (chromosome 45 and 46, pair 23)

sex related genetic disorder

excessive female chromosome

47, XXX METAFEMALE

- 1 in 80,000 NEWBORN

47, XXX Metafemale

- Generally normal (physically)

47, XXX Metafemale

- Behavioural problems [ moody especially when they mentruate, imagine our hormone fluctuations in normal women, what's more when someone has an extra copy of X? ]

47, XXX Metafemale

- Clumsiness and poor coordination (caused by reduced muscle tone)

47, XXX Metafemale

Ovarian failure (they do not mentruate, or in rare cases, they do)

47, XXX Metafemale

- still considered male because of the presence of Y chromosome (The presence of Y or Bar Chromosome automatically means that someone's a male)

47, XXY Klinefelter's SYndrome

these are males with manifestations of female characteristics

47, XXY Klinefelter's SYndrome

- 1 per 1000 boys

47, XXY Klinefelter's Syndrome

are people with 47, XXY Klinefelter's Syndrome tall or short

they are taller

Longer legs, short torso and broad hips

47, XXY Klinefelter's Syndrome

- Absent puberty (do not grow adams apple, absence of pubic hair because of low testosterone levels or underdeveloped testicles)

47, XXY KLinefelter's Syndrome

Small penis or testicles

47, XXY Klinefelter's SYndrome

- Low energy levels (not sexually active)

47, XXY KLinefelter's SYndrome

development of breasts

gynecomastia

suffers from gynecomastia

47, XXY Klinefelter's Syndrome

excessive male chromosome

47, XYY OR JACOB’S SYNDROME (SUPERMALE)

1 IN 1000BOYS

47, XYY OR JACOB’S SYNDROME (SUPERMALE)

Taller (the guiness book of records for the tallest person in the world was awarded to someone with this condition)

47, XYY Jacob's SYndrome

Have acne problems

47, XYY Jacob's SYndrome or SUPERMALE

HAVE HIGH IQ

47, XYY Jacob's SYndrome

Delayed puberty

47, XYY Jaacob's Syndrome

Aggression

47, XYY Jacob;s sYndrome

Normal appearance in sex related disorders

47, XXX METAFEMALE 47, XYY SUPERMALE (JACOB;SSYNDROME)

one piece of the pair of chromosome (pair 23) was deleted, leaving only with this:

45, XO Tuner's syndrome

1 in 2,500 women

45, XO OR TUNER’S SYNDROME

webbed neck,ear is aligned to the neck

45, XO OR TUNER’S SYNDROME

teeth problems (incomplete)

45, XO OR TUNER’S SYNDROME

broad chest with wide spaced nipples

45, XO OR TUNER’S SYNDROME

low hairline

45, XO OR TUNER’S SYNDROME

a lot of moles

45, XO OR TUNER’S SYNDROME

people with 45, XO OR TUNER’S SYNDROME have ___________ nails

spoonshaped (concave)

index finger of toe is small

45, XO OR TUNER’S SYNDROME

both genitalia manifests but only one of them functions