Review PP definitions Flashcards
Are true monosomies found?
no they are lethal
What is trisomy 18?
Edward syndrome
What is trisomy 13?
Patau syndrome
What is XXX sex chromosomes?
common abnormal karyotype
super female
What is XO sex chromosomes?
Turner Syndrome (only recognized monosomy)
What is XXY sex chromosomes?
Klinefelter syndrome
What is XYY sex chromosomes?
common abnormal karyotype (supermale)
What is an anomaly?
a structural defect of any type
What is malformation?
intrinsic, genetic
What is deformation?
extrinsic, mechanical
What is disruption?
extrinsic, teratogen exposure
What does syndrome mean?
multiple anomalies that occur independently but are caused by a single defect
What is sequence?
when a structural or mechanical factor leads to multiple secondary effects
What is homologues?
identical chromosomes originating from different parents
What are sister chromatids?
duplicated copy of each chromosome following S phase; connected at centromere
What is bivalents or tetrads?
pair of duplicated homologues…2 pairs of sister chromatids
What are chiasmata?
regions where bivalents crossover and recombine during prophase I of meiosis
What is ploidy?
origin of an individual chromosome’s DNA
What is haploid?
single parent
What is diploid?
both parents
What is heteroploid?
anything but haploid or diploid
What is euploid?
extra full set of chromosomes usually due to polyspermy (triploidy, tetraploidy)
Whata is aneuploidy?
extra single chromosome due to nondisjunction (trisomy)
What is totipotent stem cells?
from zygote, can form whole human
