Pedia - Genetics

1 / 49
Newborn screening detects which of the following disorders
Click the card to flip 👆
Terms in this set (49)
triple repeat expansion disorder that demonstrate genetic anticipationmyotonic dystrophyx-linked recessive characterized by mutation in dystropin gene & affected patient would manifest w frequent falls, fatigue, and awkward gait and onsetduchenne muscular dystrophywhat is the prognosis of Edward syndromebaby will most likely die after several weeks of lifegenetic disorder characterized by deficiency of branched chain alpha keto acid dehydrogenasemaple urine disordergenetic disorder demonstrate male to male transmission (father to son)hairy earsone of the following genetic disordersvitamin D resistant RickettsA 3yo male child was admitted for jaundice and anemia. He had fever and cough 1 week prior and was given Cotrimoxazole. On review of history, the child actually has an enzyme deficiency at birth wc caused hemolytic anemia when exposed to drug. This patter of inheritance for this condition is:X-linked recessive inheritancecytogenetics is generally indicated for patients withall of the aboveOne of the following genetic disorders is an X-linked dominant inheritanceVon Recklinghausen DisorderTrue statement in the conduct of generic history taking and genetic counselingAll of the above are correcta genetic disorder caused by mutation in PAH gene on chromosome 12 and babies with this disorder are said to be normal birth but may deteriorate rapidly within few weeks and leads to impaired brain development and several mental retardationPKUA connective tissue disease caused by a mutation in fibrillin-1 gene on the long arm of chromosome 15 is described as:affected individuals are tall with unusually long and slender limbs, scoliosis, chest wall deformitiesa 40yo female gave birth to a baby girl with microcephaly, macrosomia, maxillary hypoplasia and prognathia. growing up, neurological problems such as puppet-gait an epileptic seizure were noted. She seemed to have a happy personality and laughs most of the time with characteristic hand flapping. This child has a pattern of inheritance characterized bychromosomal anomaliesa 24 yo pregnant woman was sick with fever and rash during the early part of pregnancy. She gave birth to a baby with low birthweight, cicatricial cutaneous scarring, limb hypoplasia and microcephaly. She most likely acquired this infectious disease during pregnancyVaricellathis pattern of inheritance follows the 3 laws of inheritance wc are the law of dominance, segregation, and independent assortmentx-linked inheritancea significant exposure to this micronutrient during pregnancy can cause a birth defectfolic acida panethnic disorder by inheritance of 2 copies of chromosome 11 from the father and characterized by overgrowth conditionbeckwith-weidemann syndromein the pedigree which is the proband in the family(can't upload pic, the one with an arrow and filled in with color - check table in ppt for details)in the pedigree, identify the member with unspecified genderdiamond shaped,, check table in ppt for detailsone of the following disorders follows the medelian inheritance patternfragile X syndromepattern of inheritance for G6PD deficiencyX-linked recessive inheritanceIdentify female/s in the pedigreecirclesin this pedigree which is the consult and in the family?the one with a diagonal arrow pointing to itbirth defects are diverse group of disorders of prenatal origin caused by different inheritance pattern and can be associated with on of the following conditioncommon respiratory infectionsphysiologic therapies attempt to ameliorate the phenotype of a genetic disorder by modifying the physiology of the affected individual. Hence, they are used in the treatment of which conditioninborn error of metabolismthis is a condition in an individual with 2 cytogenetically distinct cell lines, predispose to some type of cancers but can also be responsible for the survival in lethal disorders such as trisomy 8MosaicismIdentify the symbol for miscarriagetrianglea 46 yo female gave birth to a baby that is small for gestational age with congenital heart defect, distinctive overlapping of digits, prominent occiput, deformed ears, small jaw, short neck. based on the description this baby hasXYY or Klinefelter sydromea method in molecular genetics that is the standard used in analyzing DNA structure and able to detect large molecular defects such as deletions and insertions that are below the sensitivity of chromosome analysisSanguer sequencingOne or more of the following genetic conditions can be a good candidate for gene therapyall of the abovebirth defects are diverse group of disorders of prenatal origin caused by different inheritance pattern and can be assoc with one of the following conditiondiabetes mellitusa uniparental disomy is a non-medelian inheritance that can appear due toall of the abovea child with G6PD should not be given one the following drugscotrimoxazoleprognosis for the baby with down syndromeearly recognition and management better life qualityidentify diseased memberswith diagonal line in the middle, check table for detailsumbilical cord blood stem cells can be used in transplants to treat numerous disorders including one of the following condition or diseasesickle cell diseasea genetic disorder, present with a classic salt wasting type-dehydration, vomiting, electrolyte imbalance (Hypo NA and Hyper K) adrenal crisis and cardiac arrhythmiascongenital adrenal hyperlasiaAD dominant inheritance is determined by the absence of one abnormal gene on one of the autosomes by one of the followingfamily members who do not have the abnormal gene (?) screenshot cut offwhat is the prognosis for the baby born with trisomy 16this anomaly most commonly will result.....(di na mabasa)