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Down Syndrome (Trisomy 21 ( Trisomy 13 & 18. Dr Pupak Derakhshandeh, PhD Ass Prof Medical Science of Tehran University. What are chromosomes?. Chromosomes are the structures that hold our genes Genes are the individual instructions that tell our bodies how to develop and function

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down syndrome trisomy 21 trisomy 13 18

Down Syndrome(Trisomy 21(Trisomy 13 & 18

Dr Pupak Derakhshandeh, PhD

Ass Prof Medical Science of Tehran University

what are chromosomes

What are chromosomes?

Chromosomes are the structures that hold our genes

Genes are the individual instructions that tell our bodies how to develop and function

They 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

how many chromosomes do humans have
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).
study of the chromosomes
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.
slide6
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).
how chromosome abnormalities happen
How Chromosome Abnormalities Happen?

Meiosis

Mitosis

Maternal Age

Environment

meiosis
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
chromosome abnormalities
Chromosome abnormalities
  • Abnormality of chromosome number or structure:
    • Numerical Abnormalities
    • Structural Abnormalities
numerical abnormalities
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).
numerical abnormalities1
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.
down syndrom trisomy 21 47
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
critical region
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
slide22
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 harmlesswhite spots around the iris
  • mental retardation
down syndrome prenatal risk
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
slide24
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
slide25
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.)
etiology and clinical manifestations
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.
etiology and clinical manifestations1
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.
robertsonian translocation
Robertsonian translocation
  • 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
robertsonian translocation1
Robertsonian translocation
  • 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.
slide34

Balanced reciprocal translocation

Balanced reciprocal translocation

Balanced reciprocal translocation

frequency of dysmorphic signs in neonates with trisomy 21
Frequency of Dysmorphic Signs in Neonates with Trisomy 21

Dysmorphic signFrequency (%)

Flat facial profile90

Poor Moro reflex85

Hypotonia80

Hyperflexibility of large joints80

Loose skin on back of neck80

Slanted palpebral fissures80

frequency of dysmorphic signs in neonates with trisomy 211
Frequency of Dysmorphic Signs in Neonates with Trisomy 21

Dysmorphic sign Frequency (%)

Dysmorphic pelvis on radiograph70

Small round ears60

Hypoplasia of small finger,

middle phalanx60

Single palmar crease45

slide39
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
incidence of some associated medical complications in persons with down syndrome disorder incidence
Incidence of Some Associated Medical Complications in Persons with Down Syndrome DisorderIncidence (%)

Mental retardation>95

Growth retardation>95

Early Alzheimer's disease 75%

by age 60

Congenital heart defects

(atrioventricular canal defect,

ventricular septal defect, atrial septal

defect40

disorder incidence
DisorderIncidence (%)

Hearing loss 40 to 75

Ophthalmic disorders

(congenital cataracts,

glaucoma( 60

Epilepsy5 to 10

Gastrointestinal malformations (duodenal atresia,

Hirschsprung disease)5

Hypothyroidism5

Leukemia5

disorder incidence1
DisorderIncidence (%)

Increased susceptibility to

infection (pneumonia, otitis media, sinusitis, pharyngitis( 1-6

Infertility>99% in men

anovulation in 30% of women

slide44

.

.

.

Estimated risk of Down syndrome according to maternal age

Maternal Serum Screening

Maternal Serum Screening

Maternal Serum Screening

the risk of having a child with down syndrome
The risk of having a child with Down 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
maternal serum screening
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
the risk of having a child with down syndrome1
The risk of having a child with Down syndrome
  • Maternal serum screening (multiple-marker screening) can allow the detection of trisomy 21 pregnancies in women in this younger age group.
maternal serum screening triple test or triple screen multiples of the median mom
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
multiples of the median mom
"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.
multiples of the median mom1
"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
maternal serum screening triple test or triple screen
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.
maternal serum screening triple test or triple screen1
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.
recurrence risk and family history
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

slide54
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
ultrasonographic findings associated with fetal down syndrome
Ultrasonographic Findings Associated with Fetal Down Syndrome

Chorionic villus sampling

10 to 12 weeks 0.5 to 1.5 %

Early amniocentesis

12 to 15 weeks 1.0 to 2.0 %

Second-trimester amniocentesis

15 to 20 weeks 0.5 to 1.0 %

counseling aspects
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.
ultrasound
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.
female fetus with trisomy 21
female fetus with trisomy-21
  • chromosomes 18 (aqua), X (green), and Y (red).
  • chromosomes 13 (green), and 21 (red)
trisomy 18 47 ch
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.
trisomy 13 xx xy 47 ch
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.
turner syndrome
Turner syndrome
  • Only females
  • One X chromosome
  • Or has two X chromosomes but one is damaged
  • Short stature
  • Delayed growth of the skeleton
  • Sometimes heart abnormalities
  • Usually infertile due to ovarian failure
  • Diagnosis is by blood test (karyotype)
  • 1 out of every 2,500 female live births worldwide
  • Short neck with a webbed appearance