Aneuploidy Flashcards
Down syndrome
Trisomy 21
Trisomy 21
Down syndrome
Turner Syndrome
45, X
45, X
Turner Syndrome
Short, webbed neck, borad chest, infertility
Turner Syndrome - symptoms
Turner Syndrome - symptoms
Short, webbed neck, borad chest, infertility
Klinefelter syndrome
47, XXY
47, XXY
Klinefelter syndrome
Klinefelter syndrome - Symptoms
tall, hypogonadism, sterility, lang. impairment, gynecomastia
tall, hypogonadism, sterility, lang. impairment, gynecomastia
Klinefelter syndrome - Symptoms
Patau Syndrome
47, XX, +13
47, XX, +13
Patau Syndrome
Patau Syndrome - Symptoms
characteristic facies, CNS ab., Facial cleft, polydactyly, Congenital heart disease, etc.
characteristic facies, CNS ab., Facial cleft, polydactyly, Congenital heart disease, etc.
Patau Syndrome - Symptoms
Edwards syndrome
47, XX, +18
47, XX, +18
Edwards syndrome
Edwards syndrome - symptoms
growth retardation, Hypertonicity, Seizures, ID severe
growth retardation, Hypertonicity, Seizures, ID severe
Edwards syndrome - symptoms
Triple X syndrome
47 XXX
47 XXX
Triple X syndrome
Triple X syndrome - symptoms
tall, female, seizures, LD, delayed speech, variable expressivity
tall, female, seizures, LD, delayed speech, variable expressivity
Triple X syndrome - symptoms
Jacobs Syndrome
47, XYY
47, XYY
Jacobs Syndrome
Jacobs Syndrome - Symptoms
Male, LD, behavioral issues, tall, developmental delays, autism
Male, LD, behavioral issues, tall, developmental delays, autism
Jacobs Syndrome - Symptoms
