Maternity 6-2 Flashcards
(111 cards)
AUTOSOMES - how many?
22 pairs of AUTOSOMES (any chromosome not a sex hormone)
how many sex chromosomes
1 pair of sex chromosomes
chromosome
how you get your genes from your parents. located in nucleus.
genes are a
portion of DNA
GENOTYPE
GENOTYPE = the genetic makeup of an individual when discussing a specific gene pair (can also be used to refer to an individual’s entire genetic makeup)
PHENOTYPE
PHENOTYPE = the observable expression of an individual’s genotype, such as physical features, a biochemical or molecular trait, or a psychological trait.
DOMINANT
DOMINANT = expressed (or phenotypically apparent) when only one copy of an allele is associated with the trait present.
RECESSIVE
RECESSIVE = expressed only when two copies of the alleles associated with the trait are present.
Karyotype (number forms the size of kary)
Pictorial analysis of number, form, and size of an individual’s chromosomes
Commonly uses white blood cells and fetal cells in amniotic fluid. used to test for diseases. what’s individual to you.
how do we get chromosomal abnormalities? (3 things)
Inherited
Spontaneous
Acquired
abnormality of chromosomal number (somi is abnormal)
Monosomies (just one); trisomy’s (one extra, 3)
Polyploidy
abnormality of chromosome structure (dit structure)
Deletions
Inversions
Translocations
sex chrome abnormality
ambiguous gender at birth
Deviations (poly ane is a deviant)
Polyploidy
Aneuploidy
Aneuploidy is the phenomenon in which a cell can have one or a couple of chromosomes missing or present in surplus. On the other hand, polyploidy refers to the presence of extra complete sets of chromosomes
Polyploidy (poly is an incompatible exact copy)
Polyploidy – the deviations is an exact multiple of the haploid number of a set of chromosomes. 3 sets of chromosomes. ( incompatible with life)
Aneuploidy (ana is not exactly a trisomy)
the deviation is not an exact multiple of the haploid set. This is Monosomies and trisomy’s. Trisomy the most common.
chromosome abnormality - how common (666 is abnormal)
Incidence :
0.6 % in newborns
6% in stillbirths
60% in spontaneous abortions
trisomies most
common
chromosomal abnormality structure - translocation
exchange of chromosomal material, can occur in any chromosome.
Autosomal Dominant Inheritance
Only one copy of the variant (the bad one) allele is needed for phenotypic expression.
Heterozygous
you have a 50% chance of passing it on a variant.
Vertical Transmission
the transfer of genetic material is from parents to offspring
Autosomal Recessive Inheritance (you can’t see recessive)
2 carriers of variant, they don’t express it. 25% of offspring are affected, 25% are unaffected, and 50% are carriers.
punnet squares
will be on the test