Disorders Flashcards
Patau syndrome is also known as the ___ disorder
Trisomy 13
It is a disorder with a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body, with multiple malformations due to an additional copy of all or part of chromosome 13.
Patau Syndrome
Trisomy 13 syndrome is sometimes called ____
Patau/Patau’s
Patau syndrome was discovered by ____ in (year) ___
Dr. Klaus Patau, 1960
Other names for trisomy 13
Bartholin-Patau syndrome
(after Thomas Bartholin who first observed it in 1657, and Dr. Klaus Patau who identified the syndrome’s trisomic origin in 1960.)
Complete trisomy 13 syndrome
It is when the chromosome fuses with another chromosome.
Translocation/Translocated
What is Trisomy 13 (Patau syndrome)?
Three copies of chromosome 13 in a person’s cell instead of two.
Human diagnosed with any trisomy syndrome has ___ chromosomes in their cell
47
Type of change in the chromosome number (Patau)
Extra copy of chromosome 13
It is the failure of homologous chromosomes or sister chromatids to separate properly during cell division
Nondisjunction
Having an abnormal number is called ?
aneuploid
Monosomy X or also known as __
Turner syndrome
Turner syndrome was discovered by ___ in ___
Dr. Henry Turner, 1938
What is Monosomy X (Turner syndrome)?
Having only one particular copy of X chromosome instead of two.
Human diagnosed with turner syndrome has ___ chromosomes in their cell
45
Turner syndrome can only be diagnosed to?
Female
What is the average life span of a human diagnosed with Patau syndrome?
14 days
What is the average life span of a human diagnosed with turner syndrome?
76.4 years (can live up a normal life)
Determine the disorder:
Webbed neck
Short stature
Delay puberty
Infertile
Ovarian problem
Turner syndrome
Turner syndrome has a karyotype of?
45, X
What are the other variations of turner syndrome?
Mosaicism and abnormality structure of X chromosome.
Trisomy 18 is also known as
Edward’s syndrome
Down syndrome is also known as
Trisomy 21
Microcephaly means
Small head
