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Transcript of Down Syndrome (Trisomy 21( Trisomy 13 & 18 Dr Pupak Derakhshandeh, PhD Ass Prof Medical Science of...
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Down Syndrome (Trisomy 21(Trisomy 13 & 18
Dr Pupak Derakhshandeh, PhD
Ass Prof Medical Science of Tehran University
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What are chromosomes?
Chromosomes are the structures that hold our genes Genes are the individual instructions that tell our bodies how to develop and functionThey govern our physical and medical characteristics, such as hair color, blood type and susceptability to disease. Each chromosome has a p and q arm; p is the shorter arm and q is the longer arm. The arms are separated by a pinched region known as the centromere
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How many chromosomes do humans have?
The typical number of chromosomes in a human cell is 46 - two pairs of 22 + XX/XY
Holding an estimated 30,000 to 35,000 genes.
One set of 23 chromosomes is inherited from the biological mother (from the egg), and the other set is inherited from the biological father (from the sperm).
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study of the chromosomes
with a microscope , then Stainning The chromosomes look like strings
with light and dark "bands" A picture, or chromosome map, of
all 46 chromosomes is called a karyotype
The karyotype can help identify chromosome abnormalities that are evident in either the structure or the number of chromosomes.
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The pairs have been numbered from 1 to 22, with the 23rd pair labeled "X" and "Y."
In addition, each chromosome arm is defined further by numbering the bands that appear after staining
The higher the number, the further that area is from the centromere.
The first 22 pairs of chromosomes are called "autosomes"
Final pair is called the "sex chromosomes." The sex chromosomes an individual has determines
that person's gender; females have two X chromosomes (XX), and males have an X and a Y chromosome (XY).
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Karyotype Karyotype 4646)), Xy), Xy)
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How Chromosome Abnormalities Happen?
MeiosisMitosisMaternal AgeEnvironment
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Meiosis
Chromosome abnormalities : happen as a result of an error in cell
division. “Meiosis” is the name used to describe the cell division that the egg and sperm go through when they are developing.
Normally, meiosis causes a halving of chromosome material, so that each parent gives 23 chromosomes to a pregnancy
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MeiosisMeiosis
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MeiosisMeiosis
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Chromosome abnormalities
Abnormality of chromosome number or structure:
Numerical Abnormalities Structural Abnormalities
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Numerical Abnormalities
When an individual is missing either a chromosome from a pair (monosomy) or has more than two chromosomes of a pair (trisomy).
An example: Down Syndrome, also known as Trisomy 21 (an individual with Down Syndrome has three copies of chromosome 21, rather than two).
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Numerical Abnormalities Kleinfelter Syndrome is an
example of trisomy the individual is born with three sex chromosome, XXY.
Turner Syndrome is an example of monosomy the individual is born with only one sex chromosome, an X.
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Down Down Syndrome Syndrome ((Trisomy 21(Trisomy 21(
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Trisomy 2(Trisomy 2(
Down Syndrome Down Syndrome ((Trisomy 21(Trisomy 21(
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Down syndrom) Trisomy 21, 47)
critical region: A region on the long (q) arm of
chromosome 21 Down syndrome causes mental
retardation a characteristic facial
appearance multiple malformations
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critical region:
Associated with a major risk for heart malformations
a small but still significant risk of acute leukemia
3 copies of chromosome number 21
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incidence of 1 in 660 and is by far the most common chromosomal abnormality Slight flattening of the face
A low bridge of the nose (lower than the usually flat nasal bridge of the normal newborn)
An epicanthal fold (a fold of skin over top of the inner corner of the eye, which can also be seen less frequently in normal babies)
A ring of tiny harmless white spots around the iris
mental retardation
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Down Syndrome: Prenatal Risk
The risk of trisomy 21 is directly related to maternal age
Patients who will be 35 years or older on their due date should be offered chorionic villus sampling or second-trimester amniocentesis
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Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation
The maternal serum markers used to screen for trisomy 21 are alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin
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The use of ultrasound to estimate gestational age improves the sensitivity and specificity of maternal serum screening. (Am Fam Physician 2000;62:825-32,837-8.)
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Etiology and Clinical Manifestations
Trisomy 21 is present in 95 percent of persons with Down syndrome.
Mosaicism, a mixture of normal diploid and trisomy 21 cells, occurs in 2 percent.
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Etiology and Clinical Manifestations
The remaining 3 percent have a Robertsonian translocation in which all or part of an extra chromosome 21 is fused with another chromosome.
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Robertsonian Robertsonian translocationtranslocation
The reciprocal transfer of the long arms of two of the acrocentric chromosomes: 13, 14, 15, 21 or 22
On rare occasions, other non-acrocentric chromosomes undergo Robertsonian translocation
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Robertsonian Robertsonian translocationtranslocation a reciprocal transfer of the whole
long or short arms close to the centromere
A relatively common Robertsonian translocation is between chromosome 14 and chromosome 21
In meiosis, a trivalent is formed.
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Robertsonian translocation
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TRANSLOCATIONSTRANSLOCATIONS
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Balanced reciprocal translocation Balanced reciprocal translocation
Balanced reciprocal Balanced reciprocal translocationtranslocation
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Frequency of Dysmorphic Signs in Neonates with Trisomy 21
Dysmorphic sign Frequency (%) Flat facial profile 90Poor Moro reflex 85Hypotonia 80Hyperflexibility of large joints 80Loose skin on back of neck 80Slanted palpebral fissures 80
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Frequency of Dysmorphic Signs Frequency of Dysmorphic Signs in Neonates with Trisomy 21in Neonates with Trisomy 21
Dysmorphic sign Frequency (%)
Dysmorphic pelvis on radiograph 70Small round ears 60Hypoplasia of small finger,middle phalanx 60Single palmar crease 45
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Persons with Down syndrome usually have mild to moderate mental retardation
School-aged children with Down syndrome often have difficulty with language, communication
Adults with Down syndrome have a high prevalence of early Alzheimer's disease
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Down Syndrome
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Incidence of Some Associated Medical Complications in Persons with Down Syndrome Disorder Incidence (%)
Mental retardation >95Growth retardation >95Early Alzheimer's disease 75% by age 60Congenital heart defects (atrioventricular canal defect, ventricular septal defect, atrial septal defect 40
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Disorder Incidence (%)
Hearing loss 40 to 75Ophthalmic disorders (congenital cataracts, glaucoma( 60Epilepsy 5 to 10Gastrointestinal malformations
(duodenal atresia, Hirschsprung disease) 5Hypothyroidism 5Leukemia 5
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Disorder Incidence (%)
Increased susceptibility to infection (pneumonia, otitis media,
sinusitis, pharyngitis( 1-6Infertility >99% in menanovulation in 30% of
women
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Estimated risk of Down syndrome according to maternal
age
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The risk of having a child with The risk of having a child with Down syndromeDown syndrome
1/1,300 for a 25-year-old woman;
at age 35, the risk increases to 1/365
At age 45, the risk of a having a child with Down syndrome increases to 1/30
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Maternal Serum Screening
If all pregnant women 35 years or older chose to have amniocentesis
about 30 percent of trisomy 21 pregnancies would be detected
Women younger than 35 years give birth to about 70 percent of infants with Down syndrome
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The risk of having a child with The risk of having a child with Down syndromeDown syndrome
Maternal serum screening (multiple-marker screening) can allow the detection of trisomy 21 pregnancies in women in this younger age group.
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Maternal Serum Screening"triple test" or "triple screen"
"Multiples of the Median (MoM)"
Alpha-fetoprotein (AFP) unconjugated estriol human chorionic gonadotropin
(hCG) the serum markers most widely
used to screen for Down syndrome
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"Multiples of the Median (MoM)"
AFP is produced in the yolk sac and fetal liver.
Unconjugated estriol and hCG are produced by the placenta.
The maternal serum levels of each of these proteins and of steroid hormones vary with the gestational age of the pregnancy.
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"Multiples of the Median (MoM)"
With trisomy 21, second-trimester maternal serum levels of AFP and unconjugated estriol are about 25 percent lower than normal levels
maternal serum hCG is approximately two times higher than the normal hCG level
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Maternal Serum Screening"triple test" or "triple screen"
The triple test can detect approximately 60 percent of the pregnancies affected by trisomy 21, with a false-positive rate of about 5 percent.
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Maternal Serum Screening"triple test" or "triple screen"
In women older than 35 years, the triple test fails to detect 10 to 15 percent of pregnancies affected by trisomy 21.
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Recurrence Risk and Family History
If a patient has had a trisomy 21 pregnancy in the past, the risk of recurrence in a subsequent pregnancy increases to approximately 1-3
percent above the baseline risk determined by maternal age
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Diagnosis of a chromosome-21 translocation in the fetus or newborn is an indication for karyotype analysis of both parents
If both parents have normal karyotypes, the recurrence risk is 2 to 3 percent
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Ultrasonographic Findings Associated with Fetal Down Syndrome
Chorionic villus sampling10 to 12 weeks 0.5 to 1.5 %
Early amniocentesis12 to 15 weeks 1.0 to 2.0 %
Second-trimester amniocentesis15 to 20 weeks 0.5 to 1.0 %
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a woman having amniocentesis
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Counseling Aspects Women who will be 35 years or
older on their due date should be offered chorionic villus sampling or second-trimester amniocentesis.
Women younger than 35 years should be offered maternal serum screening at 15 to 18 weeks' gestation.
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Ultrasound
During the first trimester of the majority of pregnancies, it is possible to measure the size of the fluid area at the back of the fetus’s neck, known as the nuchal translucency or NT The increasing size of the NT indicates a greater risk of the fetus having Down’s syndrome.
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UltrasoundUltrasound
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Fluorescent In Situ Hybridisation techniques
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female fetus with trisomy-21
chromosomes 18 (aqua), X (green), and Y (red).
• chromosomes chromosomes 13 (green), 13 (green), and 21 (red)and 21 (red)
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Quantitative fluorescent polymerase chain reaction
2:1 ratio (Down's Syndrome)
1:1 ratio (normal fetus)
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Trisomy 18, 47 Ch.Trisomy 18, 47 Ch.
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Trisomy 18, 47 Ch. incidence of about 1 in 3,000 There is a 3:1 preponderance of females
to males Thirty percent of affected newborns die
within the first month 50% by two months and 90% by one year. severe mental retardation microcephaly overlapping fingers, and rocker bottom
feet Neurologically they are hypertonic Other common malformations include
congenital heart, kidney, .... abnormalities.
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Trisomy 18, 47 Ch.Trisomy 18, 47 Ch.
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Trisomy 13 (XX/XY, 47 Ch) has an incidence of 1 in 5,000 Forty-four percent of affected newborns
succumb in the first month of life and 69% by six months Only 18% of the babies born with trisomy
13 survive the first year microcephaly microophthalmia (small eyes) cleft lip or cleft palate polydactyly (extra fingers) congenital heart defects urogenital defects brain malformations severe to profound mental retardation.
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Turner SyndromeTurner Syndrome ( ( 45 45, , X)X)
4545, X, X
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Turner Syndrome (45, X)
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Turner syndrome• OOnly femalesnly females• OOne X chromosome ne X chromosome • OOr has two X chromosomes but r has two X chromosomes but one is one is damageddamaged• SShort staturehort stature• DDelayed growth of the skeletonelayed growth of the skeleton• SSometimes heart abnormalitiesometimes heart abnormalities• UUsually infertile due to ovarian sually infertile due to ovarian failurefailure• Diagnosis is by blood test Diagnosis is by blood test (karyotype)(karyotype)• 1 out of every 2,500 female live 1 out of every 2,500 female live births births worldwideworldwide• SShort neck with a webbed hort neck with a webbed appearanceappearance
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KleinefelterXXY
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KleinefelterKleinefelter/47/47XXYXXY