KaryotypingKaryotyping

Does it all add up?Does it all add up?

Karyotype: a picture of paired Karyotype: a picture of paired chromosomeschromosomes

Match chromosomes basted on:Match chromosomes basted on:– Size; biggest pair is pair 1; smallest is pair 22Size; biggest pair is pair 1; smallest is pair 22– and banding pattern (staining pattern)and banding pattern (staining pattern)

First 22 pairs of chromosomes are called First 22 pairs of chromosomes are called autosomesautosomesLast pair of chromosomes are called the Last pair of chromosomes are called the sex chromosomessex chromosomes. . – Determine gender. XX are females and XY Determine gender. XX are females and XY

are males.are males.

Arrange chromosomes by size; Arrange chromosomes by size; biggest to smallest autosomesbiggest to smallest autosomes

How do you get the chromosomes How do you get the chromosomes to know?to know?

Blood samplesBlood samples

Amniocentesis Amniocentesis

Amniocentesis Amniocentesis

AmniocentesisAmniocentesis

First remove cellsFirst remove cells

Culture/grow cellsCulture/grow cells

Find cells going through mitosis: metaphase. Find cells going through mitosis: metaphase. Why?Why?

Stain chromosomesStain chromosomes

Take pictureTake picture

Pair up chromosomes; count. Normal? Pair up chromosomes; count. Normal? Abnormal?Abnormal?

Inform parents. Counsel parents.Inform parents. Counsel parents.

Cri-du-chatCri-du-chat

This syndrome is caused by a deletion of the end of the This syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5.short (p) arm of chromosome 5.Found in people of all ethnic backgrounds, more common in Found in people of all ethnic backgrounds, more common in females by a 3-1 ratio. females by a 3-1 ratio. Abnormal rate of growth of the larynx-- The cry is said to Abnormal rate of growth of the larynx-- The cry is said to have a cat like quality, which is how the syndrome got the have a cat like quality, which is how the syndrome got the name "cry of the cat." name "cry of the cat." Unusual facial features: microcephalic (small head size). Unusual facial features: microcephalic (small head size). They do not grow and develop at a normal rate. They do not grow and develop at a normal rate. Hypotonia or poor muscle tone often inhibits the Hypotonia or poor muscle tone often inhibits the development of eating habits. development of eating habits. About 30% of all children suffer from congenital heart defect. About 30% of all children suffer from congenital heart defect. All patients with cri du chat show signs of mental retardation. All patients with cri du chat show signs of mental retardation.

Cri-du-chatCri-du-chat

Cri-du-chat karyotypeCri-du-chat karyotype

Down’s SyndromeDown’s Syndrome

The result of an extra copy of chromosome 21. People The result of an extra copy of chromosome 21. People with Down syndrome have 47 chromosomes.with Down syndrome have 47 chromosomes.Down syndrome affects 1:700 children and alters the Down syndrome affects 1:700 children and alters the child's phenotype either moderately or severely:child's phenotype either moderately or severely:characteristic facial features, short stature; heart defects characteristic facial features, short stature; heart defects susceptibility to respiratory disease, shorter lifespan susceptibility to respiratory disease, shorter lifespan prone to developing early Alzheimer's and leukemia prone to developing early Alzheimer's and leukemia often sexually underdeveloped and sterile, usually some often sexually underdeveloped and sterile, usually some degree of mental retardation. degree of mental retardation. Down Syndrome is correlated with age of mother but can Down Syndrome is correlated with age of mother but can also be the result of non-disjunction of the father's also be the result of non-disjunction of the father's chromosome 21. chromosome 21.

Down’s SyndromeDown’s Syndrome

Down’s SyndromeDown’s Syndrome

Different forms; trisomy (3) of 21Different forms; trisomy (3) of 21stst chromosomechromosome

Philadelphia translocationPhiladelphia translocation

Philadelphia translocationPhiladelphia translocation

Philadelphia chromosomePhiladelphia chromosome or or Philadelphia translocationPhiladelphia translocation is a specific is a specific chromosomal abnormality that is abnormality that is associated with associated with chronic myelogenous leukemia (CML). It is (CML). It is the result of a reciprocal the result of a reciprocal translocation between chromosome 9 and 22between chromosome 9 and 2295% of people with CML have this 95% of people with CML have this abnormality abnormality

Philadelphia translocationPhiladelphia translocation

Tuner’s syndromeTuner’s syndrome

Common symptoms of Turner syndrome include:Common symptoms of Turner syndrome include:Short stature Short stature Lymphedema (swelling) of the hands and feet Broad Lymphedema (swelling) of the hands and feet Broad chest (chest (shield chestshield chest) and widely spaced nipples ) and widely spaced nipples Low hairline Low hairline Low-set ears Low-set ears Reproductive sterility Reproductive sterility Rudimentary ovaries Rudimentary ovaries Amenorrhoea, or the absence of a menstrual period Amenorrhoea, or the absence of a menstrual period Increased weight, obesity Increased weight, obesity Shield shaped thorax of heart Shield shaped thorax of heart Shortened metacarpal IV Shortened metacarpal IV Small fingernails Small fingernails

Turners SyndromeTurners Syndrome

Turner’s SyndromeTurner’s Syndrome

Klinefelter’s syndromeKlinefelter’s syndrome

Don't make as much of the male hormone Don't make as much of the male hormone testosteronetestosteroneTeenagers with Klinefelter's syndrome may have Teenagers with Klinefelter's syndrome may have less facial, body hair, may be less muscular less facial, body hair, may be less muscular By adulthood, XXY males look similar to males By adulthood, XXY males look similar to males without the condition, although they are often without the condition, although they are often taller. They are also more likely than other men taller. They are also more likely than other men to have certain health problems, such as to have certain health problems, such as autoimmune disorders, breast cancer, vein autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay. diseases, osteoporosis, and tooth decay.

Klinefelter’s SyndromeKlinefelter’s Syndrome

JacobsJacobs

Males affected with XYY are:Males affected with XYY are: sometimes taller than average sometimes taller than average increased risk of increased risk of learning disabilitieslearning disabilities and and delayed speech and language skills. delayed speech and language skills. Developmental delays and behavioral Developmental delays and behavioral problems have also been documented, but problems have also been documented, but these characteristics vary widely among these characteristics vary widely among affected boys and men. affected boys and men. Most males affected with XYY have normal Most males affected with XYY have normal sexual development and are able to conceive sexual development and are able to conceive children.children.About 1 in 1,000 males worldwide are About 1 in 1,000 males worldwide are affected with 47, XYY syndrome.affected with 47, XYY syndrome.

Jacob’s syndromeJacob’s syndrome

Triple X chromosomeTriple X chromosome

females. 1:1000 live births - healthy and females. 1:1000 live births - healthy and fertile - usually cannot be distinguished fertile - usually cannot be distinguished from normal female except by karyotype from normal female except by karyotype

Edward’s SyndromeEdward’s Syndrome

Edward’s SyndromeEdward’s Syndrome

Individuals with trisomy 18 often have:Individuals with trisomy 18 often have:a low birth weight; a small, abnormally shaped a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and overlapping fingers; heart defects; and abnormalities of other organs. abnormalities of other organs. Due to the presence of several life-threatening Due to the presence of several life-threatening medical problems, many infants with trisomy 18 medical problems, many infants with trisomy 18 die within their first month. Five percent to 10 die within their first month. Five percent to 10 percent of children with this condition live past percent of children with this condition live past their first year. their first year. Most cases of trisomy 18 are not inherited, but Most cases of trisomy 18 are not inherited, but occur as random events during the formation of occur as random events during the formation of eggs and sperm. eggs and sperm.

Patau SyndromePatau Syndrome

Patau SyndromePatau Syndrome

Serious eye, brain, circulatory defects as well as Serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely cleft palate. 1:5000 live births. Children rarely live more than a few months. live more than a few months. Complications begin almost immediately. Complications begin almost immediately. Complications may include:Complications may include:congenital heart disease. congenital heart disease. Breathing difficulty or lack of breathing (apnea) Breathing difficulty or lack of breathing (apnea) Deafness Deafness Feeding problems Feeding problems Heart failure Heart failure Seizures Seizures Vision problemsVision problems