Turners Syndrome 1 in 5,000 births 45 chromosomes X only #23 Monosomy Nondisjunction.

Slides:



Advertisements
Similar presentations
ASSESSMENT REMINDER: If you FAIL (below 70%) an assessment, regardless of the type, you can retest (following reteach) the objective you failed for a maximum.
Advertisements

Nondisjunction disorders
Genetic Disorders Autosomal and Sex-linked. HOW DO WE GET GENETIC DISORDERS? Nondisjunction – failure of chromosomes to separate during cell division.
Non-Disjunction Disorders
Genetic Mutations.
Karyotypes A karyotype is a map of an individual’s chromosomes. Karyotypes are normally used if a chromosomal genetic disorder is suspected in an individual.
Chromosomal Disorders
Chromosomal Disorders
Chromosomal Abnormalities You’ve seen the genes! Now you’ll see the chromosomes! Oh What Fun!
Human Genetic Disorders
Genetic Disorders Discussion
Mutations.
Ch. 14 The Human Genome.
Meiosis Mistakes Human chromosome abnormalities. Nondisjunction Failure of homologous chromosomes to separate during cell division Failure of homologous.
Chromosomal Abnormalities. Can occur during meiosis: During the S phase of cell cycle – mistakes in making sister chromatids. During prophase 1 – when.
Chromosomal Mutations & their effects
Nondisjunction disorders
The Human Genome Karyotype: When chromosomes are photographed, then paired to observe size and number. Human Body Cell: Has 46 chromosomes, 2 of the 46.
Human Karyotypes Human Karyotypes. Normal Female: 46, XX.
Errors in Meiosis.  Non-disjunction is the failure of homologous chromosomes, or sister chromatids, to separate during meiosis. Nondisjunction may occur.
Nondisjunction Disorders. Down Syndrome (trisomy 21) 47, XX, +21 / 47, XY, +21 the result of an extra copy of chromosome 21 characteristic facial features,
Down Syndrome (trisomy 21)
Abnormal Meiosis: Genetic Disorders. Review: Human Chromosomes  There are 46 chromosomes (23 homologous pairs) in each somatic cell  22 pairs of autosomes.
Karyotypes and Sex- Linked Traits. Diagnose the karyotypes in the back of the room at your table. Make sure to include: Case number Boy or girl Number.
Sex Determination & Nondisjunction Disorders
Chromosomal Disorders Modified by D. Dailey Hewitt- Trussville High School.
Human Heredity. There are traits that are controlled by one gene with 2 alleles. Often, one is dominant and the other is recessive Example: widow’s peaks.
A technique used to determine the genetic traits of a baby before it is born AMNIOCENTESIS.
Abnormal Meiosis: Nondisjunction.
Human Chromosomal Disorders. Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). No monosomies survive There only 3 trisomies.
Karyotyping.
X Inactivation in Female Mammals During fetal development, one female X chromosome become inactive and lies along the inside of the nuclear membrane Which.
MISTAKES IN MEIOSIS: GENETIC DISORDERS
Chromosomal Disorders. Non-disjunction During meiosis, chromosomes are supposed to be divided evenly and into gametes. During meiosis, chromosomes are.
Mutations. 2  Mutation = change in genetic material  Gene mutation = changes in a single gene  Chromosomal mutation = changes in whole chromosomes.
KARYOTYPING AND NON-DISJUNCTION. What is karyotyping? A method of identification of chromosomes Pictures of chromosomes are taken as the cell undergoes.
Don’t let this happen to you!!. MUTATIONS Changes in DNA that affect genetic information.
Chromosomal Disorders. Amniocentesis Single Chromosome Disorders 1.Deletion Genetic material is missing 2. Duplication Genetic material is present twice.
Nondisjunction disorders
Karyotypes. Karyotypes DefinitionDefinition - A picture of chromosomes cut out and grouped together. Typical human karyotype: –46 total chromosomes –23.
Karyotypes Karyotype = A display (picture) of all the chromosomes in the nucleus of a cell. A display (picture) of all the chromosomes in the nucleus.
 Occurs when chromosomes fail to separate during meiosis  EITHER  Homologues chromosomes during anaphase I  OR  Sister chromatids during anaphase.
Genetic Mutations. Remember! XX = Female XY = Male Normal # of Chromosomes in Humans = 46 (2 Sex Chromosomes and 44 Body Chromosomes)
Chromosome Abnormalities Karyotype Charts. I single Y chromosome is a sufficient to produce maleness while its absence is necessary for femaleness……
Sex Determination & Nondisjunction Disorders June 13, 2016.
Chromosome Mutations. What’s SUPPOSED to happen:  Crossing over (Homologous chromosomes exchange genes)  2 divisions result in genetically unique cells.
Chromosomes and Inheritance Chapter 12 ( ).
Chromosomal Disorders (Syndromes) ************************
Chromosomal Disorders. What are chromosomes?  Humans have 23 pairs of chromosomes, with one chromosome from each parent. The chromosomes are coiled up.
Nondisjunction disorders
Nondisjunction disorders
Chromosome Abnormalities
Mutations & Their Implications
Karyotypes & Chromosome Mutations
Chromosomes and Karyotypes
Karyotypes.
Karyotypes.
Human Genetics.
Karyotypes & Chromosome Mutations
Chromosomes & Karyotypes
CAN YOU IDENTIFY THE DISEASE?
Karyotypes & Chromosome Mutations
Nondisjunction disorders
Nondisjunction and Karyotypes
Karyotypes& Chromosome Mutations
Chromosomal Abnormalities
Chromosomal Disorders
Mitosis, Meiosis & Chromosomal Disorders
Presentation transcript:

Turners Syndrome 1 in 5,000 births 45 chromosomes X only #23 Monosomy Nondisjunction

Turners Syndrome 96-98% do not survive to birth No menstruation No breast development No hips Broad shoulders and neck

Cri-Du-Chat Syndrome 1 in 216,000 births 46 chromosomes XY or XX #5 Deletion of lower arm

Cri-Du-Chat Syndrome Moon-shaped face Heart disease Mentally retarded Malformed larynx Normal lifespan

Aniridia-Wilms Tumor Syndrome 1 in 50,000,000 births 46 chromosomes XY or XX #11 Deletion of upper arm

Aniridia-Wilms Tumor Syndrome Mentally retarded Growth retarded Blindness Tumors on kidneys Short lifespan

Thirteen Q Deletion Syndrome 1 in 500,000 births 46 chromosomes XY or XX #13 Deletion of lower arm

Thirteen Q Deletion Syndrome Mentally retarded Deformed face No thumbs Heart disease Short lifespan

Prader-Willi Syndrome 1 in 5,000,000 births 46 chromosomes XY=97% XX=3% #15 Deletion of lower arm

Prader-Willi Syndrome Small bird-like head Mentally retarded Respiratory problems Obesity Short lifespan

Eighteen Q Deletion Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX #18 Deletion of lower arm

Eighteen Q Deletion Syndrome Mentally retarded Heart disease Abnormal hands and feet Large eyes Large ears Normal lifespan

Cat-Eye Syndrome 1 in 1,000,000 births 46 chromosomes XY or XX #22 Deletion of bottom arm

Cat-Eye Syndrome Fused fingers and toes Mentally retarded Small jaw Heart problems Normal lifespan

Four-Ring Syndrome 1 in 10,000,000 births 46 chromosomes XY or XX #4 Inversion

Four-Ring Syndrome Cleft palate Club feet Testes don’t descend Short lifespan

Down Syndrome 1 in 31,000 births 46 chromosomes XY=97% XX=3% #14/21 Translocation 1 in 1,250 births 47 chromosomes XY or XX #21 Trisomy Nondisjunction Down Syndrome Trisomy

Down Syndrome Short, broad hands Stubby fingers Rough skin Impotency in males Mentally retarded Small round face Protruding tongue Short lifespan

Patau’s Trisomy Syndrome 1 in 14,000 births 47 chromosomes XY or XX #13 Trisomy Nondisjunction

Patau’s Trisomy Syndrome Small head Small or missing eyes Heart defects Extra fingers Abnormal genitalia Mentally retarded Cleft palate Most die a few weeks after birth

Edward’s Trisomy Syndrome 1 in 4,400 births 47 chromosomes XX=80% XY=20% #18 Trisomy Nondisjunction

Edward’s Trisomy Syndrome Small head Mentally retarded Internal organ abnormalities 90% die before 5 months of age

Jacob’s Syndrome 1 in 1,800 births 47 chromosomes XYY only #23 Trisomy Nondisjunction

Jacob’s Syndrome Normal physically Normal mentally Increase in testosterone More aggressive Normal lifespan ?

Klinefelter Syndrome 1 in 1,100 births 47 chromosomes XXY only #23 Trisomy Nondisjunction

Klinefelter Syndrome Scarce beard Longer fingers and arms Sterile Delicate skin Low mental ability Normal lifespan

Triple X Syndrome 1 in 2,500 births 47 chromosomes XXX only #23 Trisomy Nondisjunction

Triple X Syndrome Normally physically Normal mentally Fertile Short lifespan