*3 - Congenital Anomalies

Front 1

definition:

any gross/microscopic structural abnormalities that are present at birth

Back 1

congenital anomalies

Front 2

definition:

the study of abnormal development and the causes of congenital anomalies

Back 2

teratology

Front 3

Cause of congenital anomalies:
40-60% = ____A______
15% = _____B_______
10% = _____C_______
20-25% = ____B____ + ____C____

Back 3

A: idiopathic (unknown)
B: genetic
C: environmental

Front 4

T/F: mutant genes could happen on either autosomal or sex chromosomes

Back 4

TRUE

Front 5

normal # of chromosomes = _?_

Back 5

46

Front 6

definition:

_____ is more are less than 46 chromosomes resulting from nondisjunction

Back 6

aneuploidy

Front 7

definition:

45 chomosomes

Back 7

monosomy

Front 8

definition:

47 chromosomes

Back 8

trisomy

Front 9

____________ syndrome:

-XO
-short stature
-webbed neck
-lymphedema of hands and feet
-under-developed or absence of ovaries
-NORMAL to HIGH IQ

Back 9

Turner's Syndrome

Front 10

T/F:

monosomy in automsomes is lethal and 98% of monosomies are lethal in sex chromosomes

Back 10

TRUE

Front 11

name the 3 autosomal trisomies

Back 11

1) Trisomy 13 - Parau Syndrome
2) Trisomy 18 - Edwards Syndrome
3) Trisomy 21 - Down Syndrome

Front 12

trisomy __________:

-sloping forehead
-cleft lip/palate
-polydactyly
-rocker bottom feet
->90% dies within 1st month of birth
-mental retardation
-heart defects
-hypotonia

Back 12

trisomy 13: Parau syndrome

Front 13

trisomy __________:

-prominent occiput
-flexed fingers
-rocker bottom feet
-usually die within 2 months of birth
-mental retardation
-heart defects
-hypotonia

Back 13

trisomy 18: Edward's syndrome

Front 14

trisomy __________:

-broad, flat face
-protruding tongue
-single palmar crease
-hypoplasia of middle phalanx of 5th digit
-duodenal atresia "double bubble"
-missing 12th rib
-1/2000 mother < age 25
-increased risk with maternal age
-mental retardation
-heart defect
-hypotonia

Back 14

trisomy 21: Down Syndrome

Front 15

what 3 things do all of 3 discussed trisomies have in common?

Back 15

heart defects,
mental retardation,
hypotonia

Front 16

what 3 heart defects are common to the 3 trisomies discussed?

Back 16

ASD- atrial septal defect
VSD- ventricular septal defect
PDA- patent ductus arteriosus

Front 17

Trisomy of sex chromosome:

XXX = what sex?
characteristics?

Back 17

XXX = female

no recognizable characteristics at birth

Front 18

Trisomy of sex chromosome:

XYY = what sex?
characteristics?

Back 18

XYY = male

normal appearance, tall, aggressive behavior

Front 19

Trisomy of sex chromosome:

XXY = what sex?
characteristics?

Back 19

XXY = male

small testes--no sperm
often tall with long lower limbs
usually gynecomastia

Front 20

Structural abnormalities:

a ____________ occurs when a chromosome breaks and a piece is lost; ex: Cri du chat syndrome

Back 20

deletion

Front 21

______________ syndrome results from a deletion on the short arm of chromosome 5

Back 21

Cri du chat syndrome

Front 22

Structural abnormalities:

a ____________ results when deletions span several contiguous genes; ex: Angelman and Prader-Willi syndromes

Back 22

microdeletion

Front 23

______________ syndrome(s) result when there is a deletion on the long arm of chromosome 15

Back 23

Angelman and Prader-Willi syndromes

Front 24

____________ syndrome results from a defect on the maternal chromosome: affected individual presents with unprovoked laughter, tremor, ataxic gait, mental retardation

Back 24

angelman syndrome

Front 25

___________ syndrome results from a defect of the paternal chromosome: affect individual has increased appetite, obesity, mental retardation, undeveloped ductus syndrome

Back 25

Prader-willi syndrome

Front 26

_______________ are regions of chromosomes consisting of CGG repeats that are prone to DNA methylation which will disrupt gene functions

Back 26

fragile sites

Front 27

______________ syndrome results from a defect on the long arm of the X chromosome; characterized by mental retardation, large ears, long narrow face, male > female, cross eyed

Back 27

fragile X syndrome

Front 28

what are the 2 highest causes of mental retardation?

Back 28

1) down syndrome
2) fragile X syndrome

Front 29

______________ is any agent which induces a congenital anomaly

Back 29

teratogen

Front 30

the ability of a teratogen to produce a congenital anomaly is dependent upon the period of development with it is given:
___A____= death or failure to implant
___B____= organogenic period with intensive differentiation
___C____= period of growth

Back 30

A: first 2 weeks
B: 3-8 weeks
C: 9 weeks to birth

Front 31

T/F:
each organ system has its own most vulnerable period to teratogens

Back 31

TRUE

Front 32

the ___________ influences the embryo's reaction to the teratogen

Back 32

genotype

Front 33

T/F:

there is no dose-response relationship for teratogens

Back 33

FALSE: there is; for a drug to be considered a teratogen, an increase in the dosage must show an increasingly severe phenotypic effect

Front 34

Teratogens?

ACE (angiotensin-converting enzyme) inhibitors used as an antihypertensive agent

Back 34

yes

Front 35

Teratogens?

Alcohol

Back 35

yes, can cause FAS

Front 36

_____________ syndrome can cause growth retardation, neurological dysfunction, mental retardation, craniofacial dysmorphism, cardiac and limb defects

Back 36

fetal alcohol syndrome

Front 37

Teratogens?

Antibiotics:
1) Tetracycline
2) Streptomycin
3) Penicillin

Back 37

1) yes
2) yes
3) NO

Front 38

Teratogens?

Anticoagulants:
1) warfarin
2) heparin

Back 38

1) yes
2) NO

Front 39

Teratogens?

Anticonvulsants:
1) Phenytoin
2) Valproic acid
3) Phenobarbital

Back 39

1) yes (fetal hydantoin syndrome)
2) yes
3) NO

Front 40

what is the most vulnerable period in fetal development?

Back 40

3-8 weeks

Front 41

Teratogens?

Antitumor agents:
1) Aminopterin
2) Methotrexate (Amino-pterin derivative)

Back 41

1) yes
2) yes

Front 42

Teratogens?

Cocaine

Back 42

yes

Front 43

_____________ can cause growth retardation, microencephaly, urogenital anomalies

Back 43

cocaine

Front 44

Teratogens?

hormones:
1) Progestin
2) Diethystilbestrol (DES)
3) Oral contraceptices (estrogen and progesteronen)

Back 44

1) yes
2) yes
3) VACTERL syndrome

Front 45

Teratogens?

nicotine

Back 45

yes, IUGR

Front 46

Teratogens?

Retinoic Acid, Vitamin A

Back 46

yes

Front 47

Teratogens?

Tranquilizers
1) Thalidomide
2) Lithium carbonate
3?) Benzodiazepine derivatives

Back 47

1) YES!
2) yes
3) yes

Front 48

amelia and meromelia can be caused by the drug ____________--

Back 48

thalidomide

Front 49

Teratogens?

enviromental chemicals:
1) Hg
2) Pb
3) PCBPs

Back 49

1) yes
2) yes
3) yes

Front 50

Teratogens?

Infectious agents:
1) cytomegalovirus
2) herpes simplex type II virus
3) HIV
4) Rubella Virus
5) Toxoplasma gondii
6) Treponema palliem
7) Varicella-zoster virus

Back 50

1) - 7) yes!

Front 51

________________ syndrome is cause by _____________ virus. It causes 1st trimester triad of problems: ear (deafness), eyes (cataracts), heart (PDA); continusous :machinery: murmur sound in children infected before birth

Back 51

Congenital Rubella Syndrome, from the Rubella Virus

Front 52

____________ can be caused by infection or trauma and can cause anencephaly

Back 52

hyperthermia

Front 53

radiation in large amounts can cause 3 things:

**dx levels are non-teratogenic**

Back 53

1) CNS abnormalities
2) skeletal anomalies
3) cleft palate

Front 54

sirenomelia (mermaid syndrome) can present in children of ___________ mothers, in addition to a high incidence of transposition of great vessels

Back 54

diabetic

Front 55

a _____________ is a morphological defect of an organ, interference with normal development

Back 55

a disruption

Front 56

a _____________ is an abnormal form, from mechanical forces such as IU compresison from oligohydraminos

Back 56

a deformation

Front 57

differentiate between FAS, ARND, and FASD

Back 57

FASD: general term
FAS: most severe
ARND: less severe

Front 58

genomic imprinting occurs with which syndromes?

Back 58

AS and PWS

Front 59

these are signs of what syndrome?
thin upper lip, flat philtrum, short palpebral fissures, mental retardation, no corpus callosum, CNS dysfxn, cerebellar effects, colpocephaly, m. spasms, holoprosencephaly

Back 59

FAS