Karyotyping. Karyotyping Techniques: 1) Chorionic Villus Sampling (CVS) – performed at 8 to 10...

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  • Karyotyping

  • Karyotyping Techniques:1) Chorionic Villus Sampling (CVS) performed at 8 to 10 weeks gestation.

    2) Amniocentesis performed at 14 to 16 weeks gestation

  • Some disorders checked for by amniocentesis are:

  • Ultrasound

  • Amniocentesis

  • Process used to grow the babys cells

  • Chromosomes are arranged in size order # 1 to 22 followed by the sex chromosomes(#23)Karyotype 1

  • Description of Karyotype 1Gender: Female# of Chromosomes: 46Disorder: No

  • Karyotype 2Three chromosomes at one spot (instead of 2) is called TRISOMY.

    This karyotype is showing TRISOMY 21 aka Downs Syndrome

  • Description of Karyotype 2Gender: Female# of Chromosomes: 47Disorder: Trisomy 21 a.k.a. Downs SyndromeUnfortunately, its the most common trisomy disorder.

  • What is Downs Syndrome?Down syndrome some degree of mental retardation characteristic facial features. Sometimes have congenital heart defectsMany have some visual and hearing impairment.The severity varies greatly.

  • Karyotype 3

  • Description of Karyotype 3Gender: Male# of Chromosomes: 47Disorder: Trisomy 18 a.k.a. Edwards syndromeRick Santorum (republican candidate) and his daughter, Isabella, who has Trisomy 18

  • What is Edwards Syndrome?

    Trisomy 18 is usually fatal*, with most of the babies dying before birth and those who do make it to birth typically living only a few days. However, a small number of babies (

  • Karyotype 4

  • Description of Karyotype 4Gender: Female# of Chromosomes: 45Disorder: Turners Syndrome (only 1 X)

  • Turners SyndromeAbsent or incomplete development at puberty, including sparse pubic hair and small breasts Broad, flat chest shaped like a shield Drooping eyelids and dry eyes Possible Infertility No periods (absent menstruation) Short height

  • Karyotype 5

  • Description of Karyotype 5

    Gender: male# of Chromosomes: 47Disorder: Klinefelters Syndrome

  • Klinefelterslow levels of the hormone testosterone beginning during puberty. Possible breast development (gynecomastia),reduced facial and body hairPossible infertilityFemale fat distribution (wide hips)

  • Photo of Klinefelters Syndrome

  • Karyotype 6

  • Karyotype 6Gender: Female# of Chromosomes: 47Disorder: yesTrisomy 13: Patau Syndrome

  • Trisomy 13: Patau SyndromePolydactylCleft palateMental retardation90 -95% die within the first year

  • HermaphroditeGenetically XX XY48 ChromosomesHas both female and male genitalia. extremely rare