Numerical/Non-Disjunction Abnormalities

What chromosomal abnormality involves multiples of the haploid number?, Polyploidy

What happens in polyploidy?, Additional sets of chromosomes

What chromosomal abnormality involves extra or missing chromosomes?, Aneuploidy

What are the two types of aneuploidy?, Autosomal; Sex chromosome

Which syndrome is also known as Trisomy 13?, Patau Syndrome

What are the clinical features of Patau Syndrome?, Severe cognitive impairment; cleft lip/palate; abnormal genitalia; microcephaly; microphthalmos; low-set ears

What is the usual survival pattern in Patau Syndrome according to your notes?, Cannot survive beyond childhood

Which syndrome is also known as Trisomy 18?, Edward’s Syndrome

What are the clinical features of Edward’s Syndrome?, Severe cognitive impairment; small for gestational age; low-set ears; small jaw; congenital heart defects; misshapen fingers; rocker-bottom feet

What is the usual survival pattern in Edward’s Syndrome according to your notes?, Cannot survive beyond childhood

Which chromosomal disorder is also known as Trisomy 21?, Down Syndrome

What type of chromosomal disorder is Down Syndrome?, Frequently occurring chromosomal disorder

What are the clinical features of Down Syndrome?, Broad/flat nose; Brushfield spots; protruding tongue; short neck; low-set ears; poor muscle tone; short/thick fingers; palm crease

Which syndrome is known as gonadal dysgenesis and has a 45,XO chromosome pattern?, Turner Syndrome

What is the chromosome pattern of Turner Syndrome?, 45,XO

What are the clinical features of Turner Syndrome?, Short stature; streak ovaries; sterile; absent pubic hair; webbed/short neck

Which syndrome occurs in males with an extra X chromosome?, Klinefelter Syndrome

What is the chromosome pattern of Klinefelter Syndrome?, 47,XXY

What are the clinical features of Klinefelter Syndrome?, Gynecomastia; poor secondary sex characteristics; small testes; infertility

What chromosomal abnormality occurs in females with three X chromosomes?, 47,XXX

What are the clinical features of 47,XXX females?, Tall; slight IQ reduction; normal fertility

What chromosomal abnormality occurs in males with an extra Y chromosome?, 47,XYY

What are the clinical features of 47,XYY males?, Tall; normal phenotype; associated with ADHD