Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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  1. Match the genetic disorder to the descriptions below:
  2. Edward Syndrome
  3. Jacob Syndrome
  4. Patau Syndrome
  5. Turner Syndrome
  6. Prader-Willi Syndrome
  7. Down Syndrome (trisomy)
  8. Klinefelter Syndrome
  9. Cri du Chat
  10. 18-Q Deletion Syndrome
  11. Translocation Down Syndrome

 

________      deletion of part of the P arm of chromosome 5.  Improperly developed

                        larynx causes cat-like cry until age 2.  IQ is under 20.

________      deletion of Q arm of chromosome 15.  Affected individuals have a small

                        head, are retarded, and exhibit bizarre behavior.

 

________      deletion of Q arm of chromosome 18.  Affected individuals have thirteen

                        pairs of ribs (normal is 12 pairs) and IQ under 30.

________      extra 21st chromosome attaches to chromosome 14.  Affected individ-

                        uals exhibit epicanthic folds of eyelids, simian crease in palms, and

                        retardation.

________      trisomy 18.  Affected individuals have an elongated skull, hair lip, cleft

                        palate,  and rocker-bottom feet.  Life expectancy is about 10 weeks.

________      trisomy 21.  Affected individuals exhibit epicanthic folds of eyelids,

                        protruding tongue, small, low-set ears, and retardation.

________      47 chromosomes; XXY karyotype.  Affected individuals have low levels

                        of testosterone, enlarged breasts, small testicles, and are phenotypically

                        male.

________      47 chromosomes; XYY karyotype.  These males appear to be normal

                        although some display slight differences in their EEG patterns.

________      45 chromosomes; XO karyotype.  These individuals are phenotypically

                        female but have streak ovaries and no ova are produced and they do

                        not menstruate.  This is the only survivable disorder involving a

                        chromosome number less than 46.

________      trisomy 13.  Affected individuals have Microencephaly, microphthalmia,

                        and most die shortly after birth. 

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