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asmaa ali

on 19 May 2016

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Transcript of teratogenecity

how the toxin ( whatever its nature ) can cause a defect in human genes and produce different abnormalities.
44 autosomes
2 sex chromosomes
sex chromosomes abnormalities
klinefelter syndrome

male with ( XXY) chromosomes
long lower limbs
trunk obesity
wide hip

delayed puberty
small testes

mental retardation
Turner Syndrome
female with ( XO ) chromosomes
short stature
webbed neck
broad chest - widely spaced nipples
coarctation of the aorta

absence of sexual maturation
Causative factors:
fluoride in drinking water
maternal diabetes
viral infection
Autosomal Abnormalities
Down Syndrome
facial appearance of children with down syndrome

" mongolism, trisomy 21"
Disease outcome:

flat nasal bridge
upward slant to palpebral fissures
protruded tongue

abnormal palmar creases
congenital heart disease
mental difficulties
Causative factors:
maternal aging ( age of the mother )
maternal diabetes
viral infection
fluoride in drinking water
Cleft lip and palate
Disease outcome
cosmetic handicap
feeding handicap

respiratory difficulties
death due to cyanotic attack
Causative factors:
- Genetic factors
- Medications
anticonvulsant ( phenytoin )
antibiotics ##

feeding difficulties
speech difficulties
dental problems
ear infection and hearing loss
social challenges
Phocomelia ( seal limbs )
the limbs ( hands and feet ) are attached to the trunk, by irregularly shaped bones
Causative factor
administration of " thalidomide" during first trimester of pregnancy.

Thalidomide was used as anti emetic drug to treat morning sickness
disease outcome
mental defects:

- intellectual disability
- hyperactivity
- convulsions
Causative factors:
Microcephaly is a type of cephalic disorders. Its causes are too many, includes:

- genetic factors
- radiations during pregnancy
large amount of ionizing radiation during embryonic and fetal development

- intrauterine cytomegalovirus infection
- toxoplasmosis
- some syndromes (#)
Fetal alcohol syndrome
facial appearance of children with fetal alcohol syndrome
disease outcome
Facial CCC.
joint anomalies
congenital heart disease
mental retardation
abnormal palmar creases
smooth philtrum
thin upper lip
maxillary hypoplasia
short palpebral fissures
causative factor:
chronic alcoholism of women at the childbirth weight
there is no safe amount of alcohol to drink during pregnancy:

some babies can be affected by a little bit of alcohol.
small occasional alcohol use
= low risk
heavy alcohol use
= high risk
no alcohol use
= no risk
disease outcome:
short limbs
relatively large head
thoracic kyphosis
lumber lordosis

- One of the causes of this mutation is increasing the paternal age
( father older than 35 )

- radiations:
X-ray - radium

causative factors:
Cri du chat Syndrome
deletion of the short arm of chromosome no. 5
disease outcome:
typical moon face appearance

characteristic cat mewing
mental difficulties
congenital heart disease
(( increased distance between the two orbits of the eyes))
causative factors:
viral infection
heavy smoking
administration of LSD

LSD: lysergic acid diethylamide
psychedelic hallucinogenic agent
it is the fusion of fingers
causative factors:
hereditary and environmental factors: e.g.: maternal smoking.
webbed neck

Coarctation of aorta
Full transcript