Patau Syndrome. Patau Syndrome is the least common of the autosomal trisomies (Downs Syndrome and Edwards Syndrome). It occurs by containing an extra.

Slides:



Advertisements
Similar presentations
Chromosomes.
Advertisements

Karyotype Analysis Number of chromosomes Sex chromosome content
Karyotype A chart of chromosome pairs arranged by length and location of the centromere.
Chromosome disorders.
Karyotypes resulting in birth defects
Karyotypes & Genetic Disorders
Numerical Chromosomal disorders
Karyotype A chart of chromosome pairs arranged by length and location of the centromere.
Genetic Disorders Discussion
Chromosomes & Human Heredity
Human Genetics – Studying Chromosomes & Diseases Biology.
Meiosis Mistakes Human chromosome abnormalities. Nondisjunction Failure of homologous chromosomes to separate during cell division Failure of homologous.
Karyotype and Chromosomal Mutation Notes
Cell Division Meiosis Cell Division Meiosis Abnormal Meiosis.
Karyotypes.
Nondisjunction disorders
Karyotype picture of the chromosomes in a cell used to check for abnormalities Prenatal diagnosis: Trisomy 21 (Down’s syndrome)
Human Karyotypes Human Karyotypes. Normal Female: 46, XX.
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.
Karyotyping A picture is taken of chromosomes during mitosis.
Abnormal Meiosis: Nondisjunction.
Human Chromosomal Disorders. Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). No monosomies survive There only 3 trisomies.
Chromosomes and Karyotypes What is a Chromosome Terminology Chromosomal Mutations Differences among species Karyotypes Nondisjunction disorders.
Karyotyping.
MISTAKES IN MEIOSIS: GENETIC DISORDERS
Human Chromosome Disorders. Karyotype—Map of Human Chromosomes Homologue.
Francesca Prospero- 6 th hour. Alternate Names Patau Syndrome D1 Trisomy Chromosome 13 Trisomy Syndrome.
KARYOTYPING AND NON-DISJUNCTION. What is karyotyping? A method of identification of chromosomes Pictures of chromosomes are taken as the cell undergoes.
Chromosomal Disorders. Amniocentesis Single Chromosome Disorders 1.Deletion Genetic material is missing 2. Duplication Genetic material is present twice.
Karyotypes By Dr. Cao. Karyotypes These are pictures of chromosomes that tell us the number, size, and shape of chromosomes in an organism They help us.
Karyotyping Notes and Activity Pages PAP Biology.
4.3 Alterations In Chromosome Structure and Number
 Autosome: the first 22 homologous pairs of chromosomes  Sex Chromosome: X and Y chromosome (the 23 rd set of chromosomes)  Female: XX  Male: XY.
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.
Atypical Meiosis BC Science Probe 9 Section 4.5 Pages
Notes and Activity Pages
Genetic Birth Defects By Darius Coulter 2 nd period Extra credit.
 Occurs when chromosomes fail to separate during meiosis  EITHER  Homologues chromosomes during anaphase I  OR  Sister chromatids during anaphase.
Abnormal Chromosome Number. A Change in Chromosome Number If the spindle fails at meiosis, this causes an incorrect number of chromosomes in the gametes.
Chromosome Abnormalities Karyotype Charts. I single Y chromosome is a sufficient to produce maleness while its absence is necessary for femaleness……
Nondisjunction disorders
MEIOSIS.
Karyotypes resulting in birth defects
Notes and Activity Pages
Notes and Activity Pages
Nondisjunction disorders
Errors in Meiosis.
BY: VIVEK PATEL And FERNANDO CRUZ
Meiosis; Chapter 6.2 I. Purpose of meiosis is to create a gamete that is haploid (half the normal number of chromosomes), from a diploid cell (complete.
Mutations & Their Implications
Karyotypes & Chromosome Mutations
Karyotype A chart of chromosome pairs arranged by length and location of the centromere.
Unit 6: Karyotyping Notes
Karyotypes.
Chromosomal Mutations & Karyotype Analysis
Karyotypes & Chromosome Mutations
Karyotypes & Chromosome Mutations
Karyotypes& Chromosome Mutations
Nondisjunction disorders
Karyotypes& Chromosome Mutations
Genetics disorders-2.
Non-disjunction.
Patau Syndrome By Adam O’Toole and Paul James
Karyotype a picture of an organism’s chromosomes
Mistakes in Meiosis Nondisjunction.
Presentation transcript:

Patau Syndrome

Patau Syndrome is the least common of the autosomal trisomies (Downs Syndrome and Edwards Syndrome). It occurs by containing an extra copy of chromosome 13. It can also occur when part of chromosome 13 attaches to another chromosome during fertilization.

Symptoms People with Patau Syndrome can have one or more of the following issues: Abnormal physical features eg. Small head, sloping forehead, cleft lip and palate Heart defects Kidney defects Missing skin on the scalp Major brain structural problems Extra fingers and toes Delayed development and intellectual disabilities

Physical Characteristics

Life Expectancy Around 90% of babies die of Patau Syndrome by the age of % of people survive their first year. In some rare cases they survive until their teens

Treatment If the child does survive, they may undergo surgery to fix their heart defects or physical problems. They may also be given specific forms of therapy such as speech therapy, or physiotherapy.

Chances of being affected Like other similar conditions such as Downs Syndrome and Edwards Syndrome the risk of the child being affected by this condition increases with the age of the mother. Between 1 in 10,000 and 1 in 21,700 live births are affected by Patau syndrome. It is more common in females then males as males are less likely to survive until birth.