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 baby’s cells

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

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

Karyotype 2 Three chromosomes at one spot (instead of 2) is called TRISOMY. This karyotype is showing TRISOMY 21 aka Down’s Syndrome

Description of Karyotype 2 Gender: Female # of Chromosomes: 47 Disorder: Trisomy 21 a.k.a. Down’s Syndrome Unfortunately, it’s the most common trisomy disorder.

What is Down’s Syndrome? Down syndrome some degree of mental retardation characteristic facial features. Sometimes have congenital heart defects Many have some visual and hearing impairment. The severity varies greatly.

Karyotype 3

Description of Karyotype 3 Gender: Male # of Chromosomes: 47 Disorder: Trisomy 18 a.k.a. Edward’s syndrome Rick Santorum (republican candidate) and his daughter, Isabella, who has Trisomy 18

What is Edward’s 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 (<10%) live at least one year. * characteristics include: a hole between the upper and/or lower chambers of the heart, a narrowing of the exit vessel from the heart, kidney abnormalities, a portion of the intestinal tract can be located outside the stomach in a sac, the esophagus does not connect to the stomach, meaning the baby cannot eat by mouth, clenched hands, rocker bottom feet, small jaw, and developmental delays.

Karyotype 4

Description of Karyotype 4 Gender: Female # of Chromosomes: 45 Disorder: Turner’s Syndrome (only 1 X)

Turner’s Syndrome Absent 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: 47 Disorder: Klinefelter’s Syndrome

Klinefelter’s low levels of the hormone testosterone beginning during puberty. Possible breast development (gynecomastia), reduced facial and body hair Possible infertility Female fat distribution (wide hips)

Photo of Klinefelter’s Syndrome

Karyotype 6

Karyotype 6 Gender: Female # of Chromosomes: 47 Disorder: yes Trisomy 13: Patau Syndrome

Trisomy 13: Patau Syndrome Polydactyl Cleft palate Mental retardation 90 -95% die within the first year

Hermaphrodite Genetically XX XY 48 Chromosomes Has both female and male genitalia. extremely rare