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clinical cyto quiz

midterm

QuestionAnswer
The presence of an extra copy of a genomic segment usually could result in a___ partial trisomy
The following regarding tandem duplications is true direct duplication means the duplicate segment is in opposite direction as the original
Partial monosomy typically causes more severe phenotype than partial trisomy of the same chromosomal region True or False True
Complementary microdeletion/microduplication syndromes does not include Klinefelter syndrome
Molecular studies could be used to detect ______ which is not detectable by FISH tests the origin of duplication
If a segment at the same position of both homologus chromosomes is drived from a single parent, it could also be called uniparental disomy for that segment True or False True
The following is NOT a mechanism of uniparental disomy? DNA methylation
Uniparental disomy (UPD) for 11p15 observed in Beckwith-Wiedemann syndrome (BWS) is an example of: segmental paternal UPD.
UPD could unmask a recessive gene and cause phenotypic changes that are not seen in heterozygous individuals True/False True
The cytogenetic abnormality seen in Beckwith-Wiedemann syndrome is paternal duplication of 11p15.5.
The following is NOT a feature of Beckwith-Wiedemann syndrome Only paternal H19 tumor suppressor gene is expressed in normal individual
Most of the chromosome 22 addition cases are due to unblanced gamete formation in balanced translocation carriers. True / False False
Uniparental disomy could exist in the form of segmental/partial disomy, heterodisomy, isodisomy
Uniparental disomy could be detected by G-band analysis. True / False False
The chance that trisomic rescue could result in a normal genotype is 66%
A big size of deletion occurs in heterochromatic region is usually unlikely to cause clinical changes True/False True
the following is NOT a function of telomerase? Remove TTAGGG repeative sequence
the following are functions of telomerase Identify sites close to terminal chromosome deletion for binding, synthesize TTAGGG repeative sequence.
About 5% of terminal deletions observed by karyotyping are actually interstitial by molecular methods. True / False False
Tiny interstitial deletions that might not be able to see under a light microscope include microdeletion syndromes, contiguous gene syndromes, segmental aneusomy syndromes.
Contiguous gene syndrome means the presence of clinical manifestation due to several genes in close proximity True/False True
Williams syndrome is an example of segmental aneusomy syndromes True/False True
The term "segmental aneusomy syndrome" is used to emphasize that the phenotype is the result of critical gene dosage imbalance within a genomic segment. True/False True
Most of the trisomilic syndroms are of _______ origin maternal
True or False? The risk of autosomal aneuploidy increases when maternal age increases True
Meiosis II non-disjunction could happen when sister chromatids malsegregated
True or False? Unbalanced structural rearrangements contain net loss or gain of genetic materials that is more likely to result in a clinically affected individual True
the following statement regarding the associated risk of a structural chromosome rearrangement is true Risk for having another child with the same structural abnormality will be low if the abnormality found in first child is de novo
A chilid had an apparently balanced de novo translocation demostrated severe mental retardation and developmental delay. Which of the following could be the possible mechanisms? the translocation is not truely balanced, translocation invloved in the regulatory region of a critical gene, a position effect.
True or False? Autosomal monosomies are usually non-survivable True
True or False? Autosomal aneuploidy occurs more frequent in sperms than oocytes. False
True or False? Polyploidy are usually rare but survivable False
Tetrasomy 12p is known as ________ syndrome Pallister-Killian
True or False? All cases of tetrasomy 12p reported were mosaics with a mixture of genetically normall cells and i(12p)-positive cells True
The cytogenetic origins of supernumerary marker chromosomes are not always known at the beginning and may represent autosomal aneuploidy in a form of: tetrasomy, biosatellited dicentric chromosome, ring chromosome
Which of the following could be an indication of balanced structural chromosome rearrangement infertility, mulitple miscarriages, child with congenital anomalies
True or False? Structurally abnormal chromosomes could cause problem when pairing up with their homologous chromosomes which will result in unbalanced conceptions and eventually lead to miscarriage or spontaneous abortion. True
How does the imbalance rearrangement affect the severity of phenotype? Imbalanced rearrangements involved chromosome 13, 18, 21, sex chromosomes could end up with live birth
True or False? Unbalanced conception could be lethal and lost without notice for an infertile woman True
Created by: TDGarza1
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