Term
| chromosomal microarray is increasingly used for (3) / because |
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Definition
| individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies / because it works better than karyotypes for submicroscopic del/dup |
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Term
| (2) are generally not detectable by microarrays, / but it's ok because |
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Definition
| balanced rearrangements and low-level mosaicism / these are relatively infrequent (<1%) |
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Term
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Definition
| sodium-heparin top, used for karyotype or FISH (known microdeletion, etc.) |
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Term
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Definition
| EDTA top gets rid of ions that degrade DNA; need DNA (microarray) for multiple abnormalities, achondroplasia = single gene disorders, fragile x (repeat disorder) |
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Term
| which top do you send for a cleft lip? |
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Definition
| neither - it's probably multifactorial |
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Term
| 0 apgar score, missing nasal bone, developmental delay, simple ears, sagittal ridging (early skull bone closing), "failure to thrive", low tone... advanced maternal age + previous still birth. workup is normal. |
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Definition
| treated by G tube placement, EKG, aCGH microarray/FISH |
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Term
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Definition
| 7q11.23 - cocktail personality, good at music, idiopathic hypercalcemia, hypertension, facial dysmorphisms, congenital heart disease, failure to thrive, premature aging. detectable by FISH. |
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Term
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Definition
| velocardiofacial syndrome - hypocalcemia, heart defect, cleft palate, lopsided face, thymic hypoplasia |
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Term
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Definition
| on a CHIP; schools of FISH |
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Term
| why do trisomy 13, 18, 21 patients live? |
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Definition
| there are fewer genes on those chromosomes than on any others |
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Term
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Definition
| glass microscope supports, silicon chips or nylon membranes with spots of DNA, cDNA, or oligonucleotides on them. spots are all different colors! patient vs. control dna (both co-hybridized onto a chip and then analyzed) |
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Term
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Definition
| = the spots on a microarray |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| indicates equal control to patient ratio |
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Term
| how are spots interpreted? |
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Definition
| results are averaged over usually three spots per well (locus) and expressed as a ratio |
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Term
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Definition
| diagnostic, uncertain, benign polymorphisms, normal |
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Term
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Definition
| comparative genomic hybridization = regular type of microarray |
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Term
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Definition
| comparative expressed sequence hybridization - analyzes the level or volume at which a certain gene is expressed. offers help for different treatment options. |
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Term
| SNP arrays and pharmacogenomics |
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Definition
| poor metabolizers (2 mutant alleles) > ultrarapid metabolizers (multiple functional alleles); CYP450 genes metabolize more than 90% of commercially available drugs |
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Term
| how often can you make a diagnosis from microarray testing |
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Definition
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Term
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Definition
| head banging, fighting, no sleep, very difficult child. detectable by microarray |
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Term
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Definition
| detectable by microarray (FISH on boards) |
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Term
| potential applications of microarrays in pediatrics |
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Definition
| oncology - disease classification, risk stratification. infectious disease - pathogen detection and subtyping, antibiotic resistance analysis. pharmacogenetics - prediction of drug responses and adverse reactions |
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Term
| what disease is most common genetic disorder in children? microarray significance? |
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Definition
| asthma! several susceptibility genes identified. personalized pharmacological therapy |
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Term
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Definition
| unknown microdeletion or duplication syndrome. for global developmental delay / congenital abnormalities. |
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Term
| single gene disorders (3) / top |
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Definition
| marfan syndrome, NF-1, achondroplasia - purple EDTA (DNA) top |
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Term
| do all the genetics practice problems |
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Definition
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