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71 Cards in this Set

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whats a robertsonian translocation
recriprocal translocation at the centromere of 2 acrocentric chromosomes (centromere at the end) so you get a long and short chromosome

can cause redundant DNA
parent is normal, but the offspring is affected. often seen in DS
whats an isochromosome
when a chromosome breaks at the centromere and you get connected P and connected q's

common in turners
• Ms. PAULA NOVAK (mother of 4 y/o Seth):
• Seth had open‐heart surgery in 2007, missed
his one‐year cardiology follow‐up. Seth has
missed appointments for eye exams, thyroid
exams, ENT visits to replace tubes in his ears,
genetic doctor appointments to track his growth
and development, fittings for his orthotics, and
very importantly ‐ because Seth is still
nonverbal ‐ visits to his speech therapist. Dx? 20
heart problems- endocardial coushin development

eye exams
non verbal

DS clinical
trisomy 21- maternal nondisjunction
most common cause of mental retardation- inability to develop advanced cong strategies and processess

1. facial features- epicanthic folds, brachycephaly (short AP head),

2. intestinal stenosis, hirshprungs, esophageal atresia,

3. umbilical hernia

4. eyes: keratoconus, brushfield spots, cataracts increased risk

5. large tongue, small hands/feet, short. wide space bten toes

6. hypotonia
trisomy 21
what is the list of types of chromosome defects seen in DS, what is the associated phenotype

what type might be inherited, describe the chromosome defect
1. nondisjunction in mom: related to maternal age

2. robertsonian translocation: NOT related to maternal age. same phenotype as trisomy 21

3. other translocation: 9p trisomy t11:22

4. 1% are mosiacs: MILD phenotype. also NOT related to maternal age
in what disease is a prominent epicanthic fold present

in what disease is a simian crease present
DS- its the fold of skin near the inner eyelid

DS- the line on the hand
we know the classics trisomy 21, facies, and retardation with DS, what else goes with it
1. intestinal stenosis, hirshprungs, esophageal atresia

2. umbilical hernia

3. eyes- heratoconus, brushfield spots, cataracts

4. large tongue

5. short, small hands/feet

6. heart disease bc of endocardial cushion failure. venous flow is affectted, ASD, VSD

7. increased risk of ALL and abnormal T cell responses

6. hypotonia, simian crease, wide space btwn 1/2 toe
ok so you are doing an exam and you see a cone like cornea, what is it called, what disease is it assocaited with, why does it occur

seen in ds

its when superoxide dismutase is absent and you get the sclera building up
why do pts with downs syndrome have premature death
cardiac complications- its super common. its an endocardial coushin problem.

ALL is more common in what disease
downs syndrome

**also abnormal T cells, see pulm/ear infectins, AI disease, thyroid disease, celiac, AD
leukemia, abnormal T cell, AD, AI thyroid, celiac are all more common in what group
lets put downs all on one page
1. growth failure, mental retardation, flat head, brachycephaly, abundant neck skin

3. congenital heart disease, AV septum

3. intestinal stenosis, megacolon, umbilical hernia

4. karyotype: triosomy 21, translocations, mosiac

5. AD age 40

6. slanted eyes, epicanthal fold, brushfield spots, keratoconus, flat face, dysplastic ears, protuding wrinkled tongue,

7. short broad hands, simian crease, wide gap in toes

8. ALL
whats the prenatal screen for DS
1. AFP decreased
2. PAPP-A decreased
3. b hGC increased
4. Inhibin A increased

*nuchal lutency, cardiac and intestinal abnormality
whats the possible outcome

AFP low, hCG high, inhibin A increased, PAPPA low. nuchal lucency

**can also see cardiac and intestinal problems

**dx by doing chromosomes on amniocentesis
what are the features of trisomy 18, whats the pathogenesis
Edwards Syndrome: non disjunction or mosiac

more common in older mommas

rocker bottom feet, long overlapping fingers, congenital heart defect

small mouth, low set ears
what is Edwards Syndrome: i
trisomy 18, its a low set ears, small mouth, prominent occuput

1. first finger is long
2. horeshoe kidney
4. congenital heart disease
5. rocker bottom feet

**BAD prognosis, most die in a year
*caused by non disjunction or mosiacs
a baby is born to a mom who is 45 and the babe is small, has a small head and mouth with a large occuput, the baby has low set ears and short neck. you can see that the feet are rocker bottom adn the fingers overlap. what might you expect the heart to be like.
Edwards syndrome, trisomy 18

cardiac defects, limited hip abduciton, horse shoe kidney
rocker bottom feet is seen with...
trosomy 18, edwards
whats is patau syndrome
trisomy 13- increased occurence with increases AMA. result of non disjunction or mosaiacs (same as edwards-18)

really bad, most die before 1 mo. IUGR

clef lip, clef palate
what disease did that baby have that dr devine did the autopsy on

what did they look like
patau- trisomy 13.

**its a clef palate, clef lip, polydactyly, cyclopea
what is the trisomy that is associated with clef lip/palate and polydactyly, it has renal defects and congenital heart disease, also has rocker bottom feet

**both edwards and patau have rocker bottom feel

also can have cyclopea
cyclopea is associated with what trisomy
13- clef lip/palate, heart, polydactyly
what are hte features of 22q11 deletion syndrome
conotruncal outflow defects
cleft lip/palate
developmental delay

**T box gene deletion
psychiatric disorder- ADD, bipolar, schzo
whats cri du chat
cry of the cat

5p- dletion
whats the chromosome of DiGeorge
22q11 deletion

**thymic hyposplasi with T cell deficit
**hypoplasia of parathyroid --> hypocalcemia
*8heart defects,
**facial deformity

TBOX gene deletion
TBOX gene deletion is associated with what

3/4 pharyngeal pouch
5p- deletion
cri du chat

**cry of the cat, its a kitten cry
-small head, no mm tone, severe retardation, round face, low birth weight, failure to thrive
what is the disorder with the round face, retardation, low mm tone, small head, and failure to thrive. it is a 5p- deletion
cat cry- cri du chat
name 6 deletion syndromes
1. DiGeorge: 22q11
2. Wilms 11p-
3. retinoblastoma: 13q-
4. Cri du chat: 5p-
5 Prader Willi 15 deletion
6. Angleman: q11p13
why are all females mosiacs
lyon hypothesis- one x is inactivated randomly, can be from the mom or dad.

XIST gene inactivates the x by coating iy in non coding RNA
what determines male sex
SRY on Y chromosome

**can be translocated to an x so its an XX male
what sx are common in ppl as they accumulate more and more x chromosomes
get cognitive impairment
when are sex abnormalities ussually discovered
what are the clinical features of kleinfelter syndrome
male hypogonadism, XXY- maternal/paternal nondisjunction

female fat- hips, breasts
tall- long legs
small penis
small testicle
low IQ, not retarded

Pathogenesis of symptoms
‐ androgen receptor, located on X inactivated
‐‐ CAG trinucleotide repeat polymorphism
*dx AFTER puberty
what is the most common kayrotype for kleinfelters
XXY- paternal/maternal non disjunction

Pathogenesis of symptoms
‐ androgen receptor, located on X inactivated
‐‐ CAG trinucleotide repeat polymorphism
what are some complications associated with kleinfelters
extragonadal germ cell tumors
breast CA risk

Pathogenesis of symptoms
‐ androgen receptor, located on X inactivated
‐‐ CAG trinucleotide repeat polymorphism
what are the consequences of XYY
pretty common, normal phenotype, tall, acne, normal intelligence

**contrast with kelinfelter XXY where you are a little low IQ
what are the labs with kleinfelters
elevated FSH

low testosterone
your male pt is really tall and you think he should play b ball but hes not very athletic. he has a hard time finding pants that are long enough. his FSH is increased and he is conserned about his reast buds.

what are his genetics
what is he at risk for
xxy- kleinfelters

infertile, extragonadal germ tumors, breast CA
An 18 y/o mother delivered a stillborn female
fetus of 23 weeks gestational age. The fetus
had bilateral cervical cystic hygromas and
massive hydrops.
The distraught mother insisted upon knowing
why her baby died.
At autopsy, the fetus had coarctation of the
aorta, dysgenesis of the ovaries, and a
horseshoe kidney.
Tissue obtained at autopsy had a 45,X karyotype.
turnershypogonadism in female (male hypogonadism is kleinfelter)

*most cases are non viable
what are the features of turners
fetal loss is common- hydrops
peripheral lymphedema at birth
webbed neck- cystic hygroma, bc of lymphedema
what are hte kinds of chromosome defect seen in turners
45 XO- many are mosiacs

structural prblm with X to make partial X monosomy

this baby girl is born to a mom and the baby had edema in hands/feet. webbed neck. what might she have, what are some complications

wide chest with widely spaced nipples, normal intelligence



cubital valgus- wide carry angle of arms
moles, wide carry angle, coartation and broad chest are all asscoated with what? what else will this girl have
turners syndrome

ovarian streak, increased AI disease, Thyroid autoab --> hypothyroid
what thyroid is associated with turners
increased risk of AI disease

hypothyroid from autoAB

**will also have icnreased risk of celiac disease. simliar to DS
what disease has a short 4th metacarple

knuckle knuckle dimple knuckle
webbed neck, small 4th metacarple, moles, wide carry angle

streak ovary, increased risk of AI thyroiditis


chest shield, wide spaced nipples
peripheral edema at birth
whats the girly girl reason blond jokes exist
multi X female

phenotype is normal but remember what we said about XX, any more than 2 and cognition starts to nose dive
genetic gex

gonadal sex

ductal sex

phenotypic sex

sexual ambiguity
genetic gex: y or no Y

gonadal sex: testes, ovary

ductal sex: mullerian (women) wolffian (men)

phenotypic sex: what does it look like, external

sexual ambiguity: disagreement
what defines a true hermaphodite, what are some causes
1. ovaries and testes BOTH

usually a 46 XX with SRY present
a single person with cells from 2 zygotes
female pseudohermaphoditism

whats teh most common cause, what are hte features
XX with male external genitalia. ovaries are present

**excessive/inappropriate exposure to androgens in early gestation
-adrenal hyperplasia
-exogenous angrogens given during preggo
if someone has ovaries but their external genitalia is confused what might the problem be
female pseudohermaphodite (XX) who was exposed to andorgens in utero. could have been from mom taking them exogenously or adrenal hyperplasia
what is a male pseudohermaphodite
genetic male (XY) who has female/ambigious external genitalia.

caused by androgen insensitivity syndrome or testicular feminization
female and male pseudohermaphodites. what do they look like and why
Female pseudohermaphodite: XX, ovaries are present but external genitalia are confused bc in utero they were exposed to too much andorgen bc of 1. adrenal hyperplasia or 2. mom took androgens when preggo

2. male: XY with testes but feminization/breast, bc of androgen insensitivity (testicular feminization)
congenital adrenal hyperplasia in a baby girl will cause what.

internal sex
external sex
adrenal hyperplasia --> increased androgen,

genetic female (XX) w/ovaries
external genitalia is male

FEMALE pseudohermaphodite
a Y chromosome baby has testes and female external genitalia. what is this called, what is the cause
male pseudohermaphodite

**defective Androgen receptor, testicular feminization
• A 19 y/o woman c/o primary amenorrhea.
• The patient had normal breast development
and normal female external genitalia, but
she had no pubic or axillary hair, and the
vagina was short and ended in a blind pouch.
• Abdominal exploration revealed no uterus,
but testes were present which were resected.
They contained immature small numbers of
Sertoli cells and germ cells and moderate
Leydig cells.
male pseudohermathodite

testicular feminization bc of androgen R insensitivity
trinucleotide repeat mutations. what are some examples
long repeats of 3 nucleotides. this makes the DNA unstable and gene fx impaired

Fragile X
Fredrich Ataxia
Myotonic Dystrophy
what bases are involved with trinucleotide repeats

*HD, fragile X, freidch ataxia, myotonic dystrophy, spinocerebellar ataxias
what disease is related to trinucleotide repeat expansion in coding regions adn what are the general characterisitcs of this genetic disease
Huntington- CAG in coding region
- gain of fx --> neurotoxicity, aggregated misfolded protein

dementia, chorea
anticipation is common in what kind of mutations
trinucleotide repeat expansions

ex huntingtons- CAG in coding region
Fragile X

1. inheritance
2. clinical
3. other associated conditions
1 trinucleotide repeate more common in boys. FMR1 gene mutation. CGG repeate makes X look fragile

2. 2 most common cause of inherited mental retardation (DS is 1) LONG face, macro-orchidism. MVP, large ears, hyperextendable joints
A seven year old girl is seen by the
school counselor due to failure to make
expected progress in the first grade despite
being held back a year. She has particular
difficulty with math concepts and sequential
Testing reveals cognitive impairment.
She is referred to a physician for medical
evaluation. History reveals that this child is the oldest
of three, the product of a normal pregnancy
and delivery.
Growth has been average for age. She has
been seen regularly for immunizations and
well‐child checkups. There was some
indication of developmental delay.
She started first grade at age 6 1/2 yrs. Her parents are healthy with no significant
physical illnesses. Both are college graduates.
The maternal grandfather was diagnosed with
“atypical” Parkinson’s disease in his 60’s due
to a tremor and ataxia. He did not respond to
standard therapy for Parkinson’s disease.
Her father has a normal brother, sister.
Her mother has two normal brothers.
Mother’s sister was found to have premature
ovarian failure on an infertility workup. The child has two brothers. The 5 y/o
developed in a timely fashion and already
reads. The three year old brother has been
developmentally delayed and did not walk
until 20 months of age. Autism is under
consideration due to behaviors that include
hand flapping, hand biting and gaze aversion.
The doctor orders a PCR genetic test that
demonstrates an abnormality in FMR1. She
recommends that the 3 y/o also be tested
FMR1 gene associarted with fragile X

**its a disease characterized by mental retardation adn a long face. its a trinucleotide repeat expansion of CGG in untranslated genes

*ovarian failure is common
what does mitochondrial inheritance look like
mom transmitts to ALL children, boys do NOT transmit to ANY kids

**common disorders are MELAS and leber heriditary optic neuropathy, mitochrondrial encephalopathy
what is leber hereditary optic neuropathy
progressive BL loss of central vision, variable expression.

mitochrondrial inheritance
mitochondrial encelopathy, lactic acidosis, adn stroke like episodes.

mitochondrial disorder.
whats the genetic defect in prader willi
deletion inherited from the father. gemonic imprinting

**short, mental, obese, hypogonadism
what is genomic imprinting
when there is selective inactivation of mom or dads allele

maternal imprinting: silences maternal allele
paternal imprinting: silences paternal allele
what is angelman syndrome
happy pupptet

*its when you have deletion inherited from mom.

*mental retardation, laugh, ataxia
whats MiRNA and SiRNA
micro RNA- small, regulatory genes, dont encode protein

fx to silence gene expression

hopeful that they will be able to be used in dx and tx of disease