Adkison Quizlet- MOD Concepts and Applications Flashcards
ovarian dysgenesis
Turner syndrome
Lisch nodules
Neurofibromatosis
CGG repeat
Fragile X
CAG repeat
Huntington disease
Chr 15q11-13 maternal deletion
Angelman syndrome
t(8;14)(q24;q32)
Burkitt lymphoma - MYC and Ig heavy chains involved
t(9;22)(q34;q11)
Chronic myelogenous leukemia - ABL and BCR form new protein kinase
Chromosome 5 deletion
Cri-du-chat
Chromosome 22 deletion, athymic
DiGeorge syndrome
hyalinized seminiferous tubules
Klinefelter syndrome, 47, XXY
cafe-au-lait spots, plexiform neurofibromas
Neurofibromatosis 1
cafe-au-lait spots, vestibular schwannomas
Neurofibromatosis 2
Male Turners
Noonan syndrome, autosomal dominant
SNRPN mutation
Prader Willi syndrome
Chromosome 15q11-13 paternal deletion
Prader Willi syndrome
Streak ovaries
Turner syndrome
Almond shaped eyes
Prader Willi syndrome
Ubiquitin protein ligase (UBE3A) mutation
Angelman syndrome
Chromosomes based on centromere location
metacentric, submetacentric, acrocentric, telecentric (humans do not have the latter)
Chemical used to stimulate cell division
phytohemoglutinin
Chemical used to disrupt mitotic spindles
colchicine
Stains AT rich region of chromosomes
Giemsa and Q-banding
Chromosome stain requiring UV light
Quinacrine (Q-banding
Stains GC regions of chromosomes
Reverse (R-banding)
Number of possible alleles at a locus
many
Number of alleles at a locus in an individual
2
Number of homologs for each chromosome
2
Arrangement of chromosomes in a karyotype is based on:
centromere location, size, G-banding pattern
Which chromosomes translocate most often
Those in the D/G groups (13, 14, 15, 21, 22)
Smallest autosome
Chr 21
UPD means
uniparental disomy
ter in a genotype means
terminus or end of chromosome
t in a genotype means
translocation
del means
deletion
types of translocations
balanced or unbalanced
Polysome means
an aneuploid with or without a chromosome
polyploidy means
having one or more extra sets of chromsomes
example of polyploidy
hydatidiform mole
Number of alleles expressed at a locus
usually 2; a null allele is not expressed
formula for Barr bodies
X chromosomes - 1
Region involved in X inactivation
XIC
Dosage compensation occurs with what process
lyonization
Number of chromosomes with imprintted genes
9
Fertilization of an empty egg by 2 sperm produces
Complete mole
Fertilization of an egg by 2 sperm yields what genotype
69,XXX or 69,XXY or 69,XYY
Associated with grape like clusters of the placenta
complete mole
fetus with no fetal parts
complete mole
fetus with fetal parts
partial mole
common presentation with molar pregnancy
vaginal bleeding during first trimester, nausea and vomiting, fetus smaller than gestation age, excessive enlargement of uterus for gestational age
trisomy associated with cleft lip and cleft palate
trisomy 13
trisomy associated with clinched fist, rocker bottom feet, micrognathia, low set ears
trisomy 18
trisomy associated with simian crease, macroglossia, epicanthal folds, brushfield spots, flat occiput
trisomy 21
most common trisomy in placenta of spontaneous abortions
trisomy 16
number of gamete combinations from a t(14;21) parent
6
Most likely monosomy to be viable
45,X
heart defect associated with Turner syndrome
coarctation of the aorta
Ovary develop in Turner syndrome is described as
Ovarian dysgenesis
Hormonal feature associated with feminization in Klinefelter syndrome
High estrogen:testosterone ratio
Skeletal proportion associated with Klinefelter syndrome
lower segment is greater than upper segment
Aggressive behavior in Klinefelter variants is associated with
additional Y chromosomes
three etiologies of Prader Willi and Angelman syndromes
micodeletion, upd, methylation error
GI conditions of concern in Down syndrome infants
duodenal or anal atresia; megacolon
