genetics col 2, structural and numerical anomalies

The exercise was created 2024-04-08 by feliciajonsssson. Question count: 27.

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  • trisomy 21 is also called down syndrome
  • which is the most viable trisomy down syndrome
  • trisomy which involves possible visceral malformations, mental retardation, characteristic facies, malformations of the heart and GI tract down syndrome
  • trisomy which affects 1, 5 in 1000 births down syndrome
  • trisomy which ratio is: 3 males/2 females down syndrome
  • homogenous trisomy = all cells carries the numerical abnormality, this is 92, 5% of all cases of ... down syndrome
  • mosaic = some cells are "healthy" and some are sick, this is seen in 2, 5 % of the cases of ... down syndrome
  • trisomy 18 is also called edwards syndrome
  • 0, 2 of 1000 births have edwards syndrome
  • most patients die within the first years of life, but can live longer edwards syndrome
  • trisomy with growth deficeicny, low birth weight, distinctive hand posture (overriding fingers), short hallux and sternum etc. edwards syndrome
  • trisomy 13 is also called patau syndrome
  • 0, 1 in 1000 people are born with patau syndrome
  • tirsomy in which very very few reach adulthood, many miscarriages patau syndrome
  • trisomy: CNS, ocular, cardiac, renal, digestive and bone malformations patau syndrome
  • deletion of chromosome 1 chromosome 1p36 deletion syndrome
  • this deletion syndrome causes intellectual disability, person does not speak, temper tantrums, might bite themselves chromosome 1p36 deletion syndrome
  • deletion of chromosome 5 cri du chat syndrome
  • signs are a high pitch cry, intelectuall disability, delayed development, small head, low birth weight and weak muscle tone cri du chat syndrome
  • deletion of genetic material on chromosome 4 wolf hirschhorn syndrome
  • NSD2, LETM1 and MSX1 are genes that are deleted in people with the typical signs and symptoms if this disorder. These genes play significant roles in early development wolf hirschhorn syndrome
  • 1 in 50 000 births (occurs twice as often in females than in men) wolf hirschhorn syndrome
  • deletion of some part of chromosome 22 di george syndrome
  • one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes di george syndrome
  • heart problems, lowered immunity, cleft palate, complications from low calcium levels, various eye issues, autoimmune disease di george syndrome
  • which of the trisomies has a symptome that is Rocker bottom feet which of the trisomies has a symptome that is Rocker bottom feet
  • TRISOMY: which of the trisomies has a symptome that is cleft palate patau syndrome

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