Fetal Syndromes 2 Flashcards
Aneupoidy
abnormal number of chromosomes (number other than haploid)
What is the normal number of chromosomes in a cell?
46
How many pairs of chromosomes are in each cell?
23
Which pair of chromosomes are the sex chromosomes?
23
Normal females have which chromosomes?
two x
Normal males have which chromosomes?
x and y
Monosomy
lack of one chromosome in a pair
Monosomy of the sex chromosomes causes?
Turner Syndrome
Trisomy
additional chromosome in one of the pairs
Triploidy
complete extra set of chromosomes
What causes triploidy?
two sperm fertilize one ovum
Trisomy 13 is also known as?
Patau Syndrome
What is the 3rd most common trisomy?
TRrisomy 13
True or False: Patau babies can live full lives
False; stillborn or die within months
What anomaly is most associated with Patau Syndrome?
holoprosencephaly
Trisomy 18 is also known as?
Edwards Syndrome
What is the 2nd most common trisomy?
Trisomy 18
What anomalies are commonly associated with Edward’s Syndrome?
clenched fist, strawberry skull, choroid plexus cysts
Trisomy 21 is also known as?
down syndrome
What is the most common trisomy?
down syndrome
Monosomy X only affects which gender?
females
Features of Trisomy 21
thickened nuchal fold, thickened nuchal translucency, brachycephaly, macroglossia, flat nasal bridge,
Lymphangiecstasia is associated with?
Turner Syndrome
Karyotype
picture of the chromosomes in a cell
