Download - CHROMOSOMAL Syndromes
![Page 1: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/1.jpg)
CHROMOSOMAL SYNDROMES
![Page 2: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/2.jpg)
Human Chromosomes
![Page 3: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/3.jpg)
Down’s Syndrome
![Page 4: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/4.jpg)
Down’s Syndrome
•Caused by: extra copy of chromosome 21 (trisomy 21)
•Frequency: 1 in 700
•Symptoms: • short stature• heart defects• often sterile• some degree of intellectual disability
• Small ears• Slanted eyes
![Page 5: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/5.jpg)
Patau Syndrome
![Page 6: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/6.jpg)
Patau Syndrome
•Caused by: extra copy of chromosome 13 (trisomy 13)
•Frequency: 1 in 5,000
•Symptoms: • Brain, eye, circulatory defects
• Cleft palate• Kidney defects• Polydactyl (extra fingers/ toes)
• Structural eye defects
![Page 7: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/7.jpg)
Edward’s syndrome
![Page 8: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/8.jpg)
Edward’s Syndrome
•Caused by: extra copy of chromosome 18 (trisomy 18)
•Frequency: 1 in 10,000
•Symptoms: • Short life span (only a few months)
• Mental delay• Low birth weight• Defects in heart and other organs
• Overlapping fingers
![Page 9: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/9.jpg)
CHROMOSOMAL SYNDROMES INVOLVING SEX CHROMOSOMES
![Page 10: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/10.jpg)
Klinefelter syndrome
![Page 11: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/11.jpg)
Klinefelter Syndrome
•Caused by: XXY
•Frequency: 1 in 500 to 1 in 1, 000males
•Symptoms: • Male sex organs• Sterile• Breast enlargement• Feminine body characteristics
• Normal intelligence
![Page 12: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/12.jpg)
Jacob’s syndrome
![Page 13: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/13.jpg)
Jacob’s Syndrome
•Caused by: XYY
•Frequency: 1 in 1, 000males
•Symptoms: • Taller than average• Often below normal intelligence
• It was thought that these men were more aggressive, but this hypothesis has been disproven over time.
![Page 14: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/14.jpg)
Trisomy X Syndrome
•Caused by: XXX
•Frequency: 1 in 1, 000females
•Symptoms: • Healthy and fertile females
• Usually cannot be distinguished
![Page 15: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/15.jpg)
Turner’s syndrome
![Page 16: CHROMOSOMAL Syndromes](https://reader036.vdocuments.us/reader036/viewer/2022062501/56815eec550346895dcda3dd/html5/thumbnails/16.jpg)
Turner Syndrome
•Caused by: XO- missing
second sex chromosomes
•Frequency: 1 in 5,000females
•Symptoms: • Do not mature sexually
• Sterile• Short stature• Normal intelligence• 98% of fetuses die before birth