1 / 13

Chromosome Syndromes

Chromosome Syndromes. By Naader Khan and Matt Bernal. Three copies of chromosome 16 Most common chromosomal cause of miscarriage Mosaic Trisomy 16: Rare disorder where in which an extra chromosome 16 is present in some but not all of the cells

ginny
Download Presentation

Chromosome Syndromes

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Chromosome Syndromes By Naader Khan and Matt Bernal

  2. Three copies of chromosome 16 • Most common chromosomal cause of miscarriage • Mosaic Trisomy 16: • Rare disorder where in which an extra chromosome 16 is present in some but not all of the cells • Causes intrauterine growth retardation (IUGR) and congenital heart defects • Mosaic Trisomy 16 Confimed to the Placenta: • Chromosome 16 abnormality is believed to be present only in the placental tissues • Uniparental Disomy of Chromosome 16: • Chromosome appears normal but both copies have originated from just one of the two parents • Trisomy 16 can also be caused by a mutation Trisomy 16

  3. Also known as Down Syndrome • Most common chromosome syndrome in born babies • Facts about Down Syndrome: • A genetic condition in which a person has 47 chromosomes instead of 46 • Extra copy of 21 chromosome • Causes problems in which the body and the brain develop Trisomy 21

  4. Decreased muscle tone at birth • Flattened nose • Small ears • Small mouth • Upward slanting eyes • Wide, short hands with short fingers • Single crease in palm of hand • White spots on the colored part of the eye • 1/800 People have Down Syndrome • Most common genetic cause of mental disability Trisomy 21(Down Syndrome) Symptoms

  5. Diagnosis can be made via chromosome analysis • Aminocentesis • Thin needle is inserted through the abdominal wall and a sample of aniotic fluid is taken which is analyzed for chromosome anomalies • Chorionic villus sampling (CVS) • Collection of chorionic villus cell sample which is analyzed for deviations • Percutaneous umbilical blood sampling(PUB) • Fetal blood taken from umbilical cord using a needle. Blood sample is examined for chromosome abnormalities Down Syndrome Diagnostic Criteria

  6. Also known as “Edwards syndrome’’ • Extra copy of chromosome 18 • Occurs on average every 1 out of 6,000 births • Sympotms: • Low birth weight • A small jaw and mouth • Abnormally shaped small head • Overlapping fingers • Clenched fist Trisomy 18

  7. Known as “Patau Syndrome’’ • Extra copy of chromosome 13 • Occurs 1 out of every 10,000 newborns • More than 80% of children die in the first year • Treatment varies from child to child based on different symptoms Trisomy 13

  8. Clenched hands • Close set eyes • Decreased muscle tone • Extra finger or toes • Low-set ears • Scalp defects • Small eyes • Small head and lower jaw • Cleft lip or palate Symptoms of Trisomy 13

  9. Also known as “Turner syndrome’’ • Condition only occurs in females • Most commonly female patient only has one x chromosome • Occurs about 1 out of 2,000 births • Can be diagnosed at any stage of life • Infants often have swollen hands and feet Monosomy X

  10. Arthritis • Cataracts • Diabetes • Heart defects • High blood pressure • Kidney problems • Obesity • Ear infections complications

  11. Also known as “Klinefelter syndrome” • Only affects males • Extra x chromosome instead of one X and one Y • Occurs in 1 out 1,000 males • Some males are given testosterone in order to be treated XXY Syndrome

  12. Sparse body hair • Enlarged breast • Wide hips • Voices may not be deep • Cannot father children Symptoms of klinefelter syndrome

  13. http://www.trisomy16.org/about/what_are_doc16.html • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/ • http://www.medicinenet.com/trisomy_18/page3.htm#how_is_trisomy_18_diagnosed • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/ • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/ • http://www.medicinenet.com/trisomy_18/page3.htm#how_is_trisomy_18_diagnosed • http://www.medicinenet.com/down_syndrome/page4.htm#how_is_the_diagnosis_of_down_syndrome_made Sources

More Related