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22 Cards in this Set
- Front
- Back
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Stickler syndrome is a ____ condition that causes distinct facial appearance, hearing loss, early onset of ___, ___abnormalities, as well as oral clefts due to ______. Thus a sequence can be part of finding a larger ____. |
autosomal dominant arthritis skeletal and ocular pierre robinson sequence syndrome
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VACTERL association is known to be of greater risk in ____ |
children of diabetic mothers, children of mothers on cholesterol lowering drugs, and mutations in FANCB gene on X chromosome |
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___ banding stains normal constituitive heterochromatin and classifies chromosomes __, __, ___ and __. Specifically near the ____ |
C banding 1, 9, 16, Y centromere |
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___ staining identifies NORS in unusual locations and is for satellite chromosomes (__, ___, ___, ___, ___) |
silver staining 13, 14, 15, 21, 22 |
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____ is the most common human chromosome abnormality and usually it is due to ______ |
aneuploidy meiotic non-disjunction (I or II) increases with age |
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Most mosaicism is due to ___ errors after fertilization |
mitotic |
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Characteristics of 47, XYY are __ While Kleinfelters 47 XXY |
taller and still fertile and can be learning disabilities usually infertile
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pericentric inversions ___ while paracentric inversions ___ |
include the centromere (p, q) do NOT include centromere |
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What are the risks of paracentric inversion? pericentric? |
either spontaneous abortion or same mutation as parent
high proportion of spontaneous abortions and mutations |
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Examples of unbalanced structural abnormalities are __, ___, ___ |
ESACs (markers)-->small and difficult to classify, +mar, partial trisomy isochromosome-->two copies of same arm, dup, del, mirror, or centromere in wrong place ring-->uncommon, formed by deletions at both terminal ends, causes abnormal phenotype |
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use ___ if it retained some of the chromosome specifically the centromere in an unbalanced translocation |
der |
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Robertsonian translocations involve fusion of ___ losing ____. Usually involves __ chromosomes and reduces chromosome number by ___. Carriers are ___ |
acrocentric centromeres satellite chromosomes, 13, 14, 15, 21, 22 by 1 to 45 if normal normal |
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What are some examples of X linked recessive conditions? |
hemophilia A red green color blindness duchennes muscular dystrophy (wheel chair and cardiomyopathy) fragile x syndrome |
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In X-linked dominant disorders males pass to _____, there is vertical transmission |
all daughters therefore more females affected |
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What's an example of reduced penetrance? |
retinoblastoma |
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_____ syndrome is a loss of terminal material from ____ and phenotypic features are cognitive impairment, seizures, ocular hypertelorism (wide separation between eyes) and a broad beaked nose, micrognathia and Greek helmet, + cleft lip |
Wolf-Hirschhorn syndrome 4p |
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__ is a loss of the terminal material from ____ and the indicative symptom in new borns is cat cry other symptoms include micrognathia, hypertelorism, epicentral folds, low set ears, severe developmental and cognitive delays |
cri-du-chat syndrome 5p |
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____ is a chromosome __ deletion that results in aberrant miRNA processing affecting multiple organ systems. Dysmorphic facial features, long slender fingers, thymic aplasia, developmental delay and susceptible to schizophrenia. Primarily affects ___ arches of embryonic development. HYPOCALCEMIA |
Velocardial facial syndrome, or DiGeorge 22q11 3rd and 4th branchial arches |
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___ syndrome is a chromosome ___ deletion and involvement of elastin gene could be responsible for phenotypic problems. Symptoms are microcephally, stellate iris, puffy eyes, full cheeks, hoarse voice and supravalvular aortic stenosis. HYPERCALCEMIA and bladder diverticula |
william's syndrome 77q11.23 THEY LIKE MUSIC AND ARE SUPER OUTGOING |
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Sup7q11 symptoms ___ |
opposite thin lips, poor verbal skills and autistic like |
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____ have straight eyebrows, hypotonia, microcephaly and seizures |
del 1p36 |
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___ have long face with high forward, pear nose, slender fingers, friendly, kidney and heart anomalies |
del 17q21.31 |
