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