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Cytogen > DISEASES OF CHROMOSOMAL ABNORMALITIES GROUP 6 | BSMLS 2C | CYTOGENETICS > Flashcards

DISEASES OF CHROMOSOMAL ABNORMALITIES GROUP 6 | BSMLS 2C | CYTOGENETICS Flashcards

1
Q

The most common genetic etiology of moderate intellectual disability(IQ between 25-74).

A

Down syndrome

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2
Q

Down syndrome is a genetic condition where a person is born with an extra copy of________. This means that they have a total of 47 chromosomes instead of 46.

A

chromosome 21

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3
Q

Down syndrome

Karyotype notation:

A

47 XY +22 (male) or 47 XX +21 (female)

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4
Q

Accounts for 95% of Down Syndrome cases. A person who is affected have 3 separate copies of chromosome 21 insted of 2 copies in its cells.

A

TRISOMY 21

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5
Q

A rare variation that occurs when one chromosome breaks off. The chromosome 21 is in 3 copies (like trisomy 21),but part of the chromosome breaks off and joins itself to another chromosome. It is Caused by extra genes in the egg or sperm of parents.

A

TRANSLOCATIONAL DOWN SYNDROME

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6
Q

2% of DS cases Some of their cells have 3 copies of Chromosome 21, while other cells have the typical 2 copies of said chromosome. They may have fewer features of the condition.

A

MOSAIC DOWN SYNDROME

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7
Q

ndividuals who are affected by this disease are more prone to congenital heart defects (50%) such as atrioventricular septal defects, ventricular septal defects, isolated secundum atrial septal defects, patent ductus arteriosus, and tetralogy of Fallot.

A

Down syndrome

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8
Q

Down syndrome diagnosis

A

Amniocentesis

Typically performed between 15-20 weeks of pregnancy.

Chronic Villus Sampling (CVS)

Almost the same with amniocentesis, but done earlier at 10-12 weeks. Insertion of catheter through the cervix, to the placenta to get tissue.

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9
Q

Also known asTrisonomy 18

A

EDWARD SYNDROME

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10
Q

EDWARD SYNDROME

It has 47 total number of chromosomes (extra copy).

+
denotes that the aneuploidy (trisomy) happens in the _____

Karyotype notation:

A

chromosome 18

47 XY +18 (male) or 47 XX +1 (female)

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11
Q

It is very uncommon for fetuses with this condition to survive. Most babies with this syndrome will die in the utero, and if delivered, shortly after being born, it will die. Because of the extra copy of chromosome 18 resulting to several organ defects and malformation.

A

Edward syndrome

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12
Q

Most babies with Edwards’ syndrome have an extra chromosome 18 present in all cells

A

FULL EDWARD’S SYNDROME

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13
Q

A small number of babies with Edwards’ syndrome (about 1 in 20) have an extra chromosome 18 in just some cells. This can lead to milder effects of the condition, depending on the number and type of cells that have the extra chromosome. Most babies with this type of Edward’s syndrome who are born alive will live for at least a year, and they may live to adulthood.

A

MOSAIC EDWARD’S SYNDROME

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14
Q

A very small number of babies with Edwards’ syndrome (about 1 in 100) have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18

A

PARTIAL EDWARD’S SYNDROME

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15
Q

CLINICAL MANIFESTATIONS

Newborns affected with this syndrome has an average life span of 2-4 months.

A

Edward syndrome

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16
Q

is a condition that is caused by an extra chromosome number 16 (three copies instead of two).

A

Trisomy 16

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17
Q

The most commonly observed autosomal aneuploidy in spontaneous abortion.

Karyotype notation:

A

47 XX +16 (female) or 47 XY +16 (male)

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18
Q

47 XX +16 (female) or 47 XY +16 (male)

A

TRISOMY 16

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19
Q

A fetus with full trisomy 16 has an extra copy of chromosome 16 in every cell of the body. This abnormality usually results in a first-trimester miscarriage.

A

FULL TRISOMY 16

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20
Q

A rare variation that occurs when a fetus has an extra copy of the chromosome 16 in some cells of the body, but not every cell.

Babies with mosaic trisomy 16

often survive, and though they’re typically born early and with a low birth weight, many grow to a normal weight and height by toddlerhood.

A

MOSAIC TRISOMY 16

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21
Q

Variations of trisomy 16 — called 16p or 16q — can also occur when

every cell in a fetus’s body has changes to part, but not all, of a

chromosome. In some cases

babies with trisomy 16p or 16q

can survive, but they can have developmental delays, intellectual differences, behavioral problems

and distorted facial features

A

PARTIAL TRISOMY 16

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22
Q

Live born infants with mosaic______ may have intrauterine growth restriction (IUGR), orofacial clefting, cardiac defects, renal abnormalities, and other medical conditions.

Mosaicism for trisomy\____ can occur with variable phenotype. There is increased prevalence of adverse pregnancy outcomes such as preeclampsia, IUGR, spontaneous preterm birth, and stillbirth in pregnancies with trisomy ___

A

trisomy 16

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23
Q

DIAGNOSIS

Specialized genetic tests such as:

karyotyping, fluorescence in situ hybridization (FISH), quantitative polymerase chain reaction (qPCR), and microarray

These confirmatory tests are generally performed on cells from chorionic villus sampling (CVS) or amniocentesis during pregnancy, on cord blood or peripheral blood sample after the baby is born, or on products of conception (POC) in the case of a miscarriage.

A

Trisomy 16

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24
Q

Also known as Patau Syndrome

A

TRISOMY 13

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25
Q

clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13.

Karytoype notation (chromosomal shorthand):

A

TRISOMY 13

47, XX, +13 or 47, XY, +13

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26
Q

However, 20% of Patau syndrome can result from an______ translocation and rarely by mosaicism. Recently, there have been reports of several cases of longer survival due to aggressive medical therapy

A

unbalanced

27
Q

CLINICAL MANIFESTATIONS

Cleft lip often midline; Flexed fingers with polydactyly; Ocular hypotelorism (decreased distance between the eyes or pupils), Bulbous nose; Low-set, malformed ears; Microcephaly (smaller than normal head size); Cerebral malformation, especially holoprosencephaly (brain does not divide into 2); Microphthalmia (abnormally small eye or eyes); Cardiac malformations; Scalp defects; Hypoplastic or absent ribs; Visceral and genital anomalies

A

Trisomy 13

28
Q

Diagnosis of trisomy 13

A

Prenatal:

1) Chorionic villi sampling

2) Amniocentesis

3) Fetal free DNA analysis

Prenatal ultrasound after 17 weeks gestation is most sensitive in detecting the abnormalities of Patau syndrome

29
Q

Trisomy 13
Treatment and management

A

Intensive treatment of Patau syndrome is controversial due to the universally poor prognosis of patients despite treatment. Infants diagnosed with Patau syndrome may need postdelivery oxygenation and ventilation; this may require intubation due to facial defects. Surgeries for common defects including herniorrhaphy, cleft lip repair, feeding tube placement, or corrective orthopedic surgeries

30
Q

is the most common sex chromosomal aneuploidy in males

This syndrome is the most common cause of hypogonadism and infertility in males and the most common sex chromosome aneuploidy in humans.

Those with this abnormality have normal intelligence but are at risk for learning disabilities.

A

Klinefelter syndrome

31
Q

Klinefelter sundrome

The precise genetic etiology of supernumerary X chromosomes ______was identified in 1959

A

(47,XXY)

32
Q

Extra X chromosomes lead to testicular hyalinization, fibrosis, and hypofunction

A

Klinefelter

33
Q

SIGNS & SYMPTOMS

The syndrome describes males with:

Tall stature, Small testicles after puberty
Gynecomastia
Azoospermia
Reduced facial hair Reduced body hair

Reduced muscle strength
Osteoporosis
Feminine fat distribution
Varicose veins Low energy

A

Klinefelter

34
Q

A diagnosis of_______ syndrome is confirmed with blood tests. The only way to confirm the presence of an extra chromosome is by a karyotype test

A

klinefelter’s

35
Q

Prevention & Treatment/Management

No Cure

should be monitored closely for speech, learning, and behavioral problems

should be referred for early evaluation and treatment as needed

Testosterone, LH, and FSH levels should be checked at 11-12 yr of age

Replacement therapy with a testosterone preparation is recommended once FSH and LH begin to rise above normal

Lifelong Testosterone treatment/ therapy

A

Klinefelter

36
Q

Jacobs syndrome, also known as_____ syndrome, is a rare genetic condition that occurs in about 1 out of 1000 male children.

It belongs to a group of conditions known as “sex chromosome trisomies”, with______ syndrome being the more common type.

This condition was initially discovered in the 1960s

A

47,XYY

Klinefelter’s

37
Q

Signs and symptoms

Macroorchidism
Tall stature
Macrocephaly
Hypertelorism

A

Jacob’s syndrome

38
Q

DIAGNOSIS

After birth, diagnosis is made using karyotype analysis from a sample of the patient’s blood. 47,XYY men who are being seen for infertility should receive a semen analysis, testicular ultrasound, and bloodwork to measure reproductive hormones

A

Jacob’s syndrome

39
Q

PREVENTION AND TREATMENT

Should receive genetic counseling Should receive genetic counseling Speech therapy Occupational therapy (may be needed hypotonia is present)

A

Jacob’s syndrome

40
Q

______[ syndrome is the most common sex chromosome abnormality in women.

A

Turner or XO

41
Q

______ syndrome is a random genetic disorder that affects women.

A

Turner’s

42
Q

The karyotype revealed absence of an X chromosome

A

(45,X)

TURNER’S SYNDROME

43
Q

SOME HAVE AN ISOCHROMOSOME WITH THE LONG ARM OF THE X CHROMOSOME DUPLICATED, BUT THE SHORT ARM ABSENT

A

Turner’s syndrome

44
Q

SIGNS & SYMPTOMS

Shorter than their peers, final adult height of 4’7

low-set ears

drooping of the eyelids

do not ovulate or menstruate and breasts do not develop

They cannot hear certain frequencies of sound.

A

Turner’s syndrome

45
Q

DIAGNOSIS

Before birth, NONINVASIVE PRENATAL TESTING (NIPT) determining the risk that the fetus will be born with.

After birth, MICROARRAY TEST compared px’s sample with normal control to find missing or extra chromosome pieces.

A

Turner’s syndrome

46
Q

TREATMENT

NO CURE
GROWTH HORMONE
ESTROGEN REPLACEMENT THERAPY CARDIAC SURGERY

A

Turner’s syndrome

47
Q

The name of the syndrome, meaning cat cry, was coined after the main clinical finding of a high-pitched, monochromatic cat-like cry that happens because of a missing piece (deletion) of a chromosome

A

CRI DU CHAT SYNDROME

48
Q

CRI DU CHAT SYNDROME

Researchers believe that the loss of a specific gene,________, is associated with severe intellectual disability in some people with this condition.

A

CTNND2

49
Q

The _________ provides instructions for making a protein called delta-catenin

A

CTNND2 (catenin delta 2) gene

50
Q

Cri-du-chat (cat’s cry) syndrome, also known as ____ syndrome, is a chromosomal condition that is caused by a deletion of the short arm of chromosome 5.

A

5p-
(5p minus)

51
Q

SIGNS & SYMPTOMS

a high-pitched, cat-like cry or weak cry

low birth weight

a small head

eyes spaced wide apart

abnormalities of the palate, such as an unusually narrow and high palate

Intellectual disability and delayed development

A

Cri du chat

52
Q

difficulties with suckling and swallowing

high rate of infections, such as ear and upper respiratory tract infections

eye problems, such as a squint (strabismus

heart defect

A

Cri du chat

53
Q

DIAGNOSIS

CHROMOSOMAL TESTING

The diagnosis of______ syndrome is generally made in the hospital at birth. The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du chat syndrome

A

cri du chat

54
Q

TREATMENT

NO CURE physiotherapy to improve poor muscle tone speech therapy communication alternatives, such as sign language, since speech is usually delayed, often severely

A

5p-

55
Q

usually associated with a delition of the long arm of paternal chromosome 15.

A

Prader willi syndrome

56
Q

It is a complex genetic disorder that affects many parts of the body. It is characterized by a combination of physical features, behavioral problems, and intellectual disability

A

Prader willi syndrome

57
Q

PRADER WILLI SYNDROME

The error occurs randomly during sperm or egg formation, and is not inherited from either parent. There are three main ways in which the genetic error can occur:

A

Deletion
Maternal disomy
Imprinting defect

58
Q

: A small piece of the father’s chromosome 15 is missing. This is the most common cause of PWS.

A

Deletion

59
Q

: Both copies of chromosome 15 come from the mother, and there is no copy from the father.

A

Maternal disomy

60
Q

: A defect occurs in the genetic imprinting process, which determines which parent’s genes are active in certain regions of the chromosome.

A

Imprinting defect

61
Q

SIGNS & SYMPTOMS

hyperphagia- excessive hunger that is why they are obese for paternal deletion.

hypothalamic dysfunction- which can lead to problems with temperature regulation, sleep, and sexual development

hypotonia- weak muscle tone in infancy

Cognitive impairment, mental retardation, Speech impediments problems- such as stubbornness, temper tantrums, and obsessive-compulsive behaviors

Short stature

Narrow forehead

Small hands and feet

Light skin and hair

A

Prader willi

62
Q

Prader willi Karyotype

A

karyotype 47,XY,+min(15)(pter->q11.1:)

maternal UPD 15–case

63
Q

Treatment for ______syndrome focuses on managing the symptoms and improving the quality of life for the affected individual.

Growth hormone therapy: Diet and nutrition management: Behavioral therapy: Occupational therapy: Speech therapy: Sex hormone therapy

A

Prader-Willi

Cytogen (34 decks)

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