Karyotypes abnormalities Flashcards
Cri-du-chat Syndrome (Cat Cry Syndrome):
Cause: A deletion of genetic material on part of chromosome 5.
Symptoms:
Shrill, cat-like cry in newborns.
Distinct facial features (small head, round face, wide nose, widely set eyes, low-set ears, small jaw).
Low birth weight, delayed growth, feeding difficulties.
Weak muscle tone, curvature of the spine.
Down Syndrome (Trisomy 21):
Cause: Extra full or partial copy of chromosome 21.
Symptoms:
Intellectual disability, characteristic facial features (upward slant of eyes, flat nasal bridge).
Heart defects, gut problems, hearing and vision issues.
Thyroid problems.
Edward’s Syndrome (Trisomy 18)
Cause: Extra copy of chromosome 18.
Symptoms:
Severe developmental delays, low birth weight, abnormal head shape.
Intellectual disability, emotional/behavioral issues.
Heart defects, kidney problems.
Jacob’s Syndrome (XYY Syndrome):
Cause: Extra Y chromosome (XYY karyotype).
Symptoms:
Taller stature, learning difficulties, speech problems.
Autism, attention difficulties, emotional/behavioral issues.
Normal sexual development.
Klinefelter Syndrome (XXY Syndrome):
Cause: Extra X chromosome in males.
Symptoms:
Small testicles, sparse facial/body hair, gynecomastia (enlarged breasts).
Learning disabilities, taller-than-average height.
Infertility.
Patau Syndrome (Trisomy 13):
Cause: Extra copy of chromosome 13.
Symptoms:
Severe intellectual disability, heart defects, cleft lip/palate.
Extra fingers/toes, eye abnormalities.
Short lifespan.
Triple X Syndrome (XXX Syndrome):
use: Extra X chromosome in females.
Symptoms:
Tall stature, learning difficulties.
Normal sexual development.
Usually asymptomatic.
Turner Syndrome (Monosomy X):
Cause: Missing or partially missing X chromosome in females.
Symptoms:
Short stature, webbed neck, heart defects.
Infertility, delayed puberty.
Normal intelligence.
