http images google comimgres imgurlhttp cmgm stanford edubiochem

http: //images. google. com/imgres? imgurl=http: //cmgm. stanford. edu/biochem 201/Slides/Chromatin%2520 Structure/15%2520 EM%2520 of%2520 Chromatin%2520 Solenoid. JPG&imgrefurl=http: //cmgm. stanford. edu/biochem 201/Slides/Chromatin%2520 Structure/&h=738&w=496&sz=160&tbnid=5 v_1 MWb 3 -t. IJ: &tbnh=138&tbnw=93&start=5&prev=/images%3 Fq%3 Dchromatin%2 Bpicture%26 hl%3 Den%26 lr%3 D%26 ie%3 DUTF-8%26 sa%3

Chromatin: Nucleosomes & Spacer DNA http: //images. google. com/imgres? imgurl=http: //www. people. virginia. edu/~zs 9 q/zsfig/chromatin 1. jpg&imgrefurl=http: //www. people. virginia. edu/ ~zs 9 q/zsfig/chromatin. html&h=600&w=600&sz=77&tbnid=KQ 3 b 5 wmq 68 s. J: &tbnh=133&tbnw=133&start=9&prev=/images%3 Fq%3 Dchromatin%2 Bpicture%26 hl%3 Den%26 lr%3 D%26 ie%3 DUTF-8%26 sa%3 DN

Normal male karyotype at the 650 band level.

Chromosome Nomenclature 11. 3 p 11. 2 11. 31 11. 22 11. 21 11. 2 12 q 11. 23 12. 1 12. 3 12. 2 21. 1 21 22 23 21. 31 21. 33 22. 1 22. 2 22. 3 23 21. 2 21. 32

Chromosome Painting: SKY: Spectral Karyotyping

FISH: Williams Syndrome Fluorescent in situ hybridization

Down’s Syndrome

http: //www. bbc. co. uk/southyorkshire/myspace/dsa/index. shtml

Erik Nichols and mother, St. Petersburg, FL http: //www. sptimes. com/2002/05/12/Tampa. Bay/Lifelong_devotion. shtml

Erik Nichols, 21, and his sister, 17 -year-old Lindsey, on their graduation from high school. (Saint Petersburg, FL) http: //www. sptimes. com/News/052701/Northoftampa/Sharing_a_triumph_. shtml

James Webster and mother, Anne http: //www. dsne. homestead. com/New. Parents. Info. html

Trisomy 21 Karyotype http: //www. genecrc. org/site/lc/lc 2 e. htm

Turner’s Syndrome

Turner’s Syndrome Background: Described in 1938 by Henry Turner Cause isolated in 1960 (loss of one/part of one sex chromosome) Physical Symptoms: • Short Stature (mean height < 5 feet) • Failure to develop secondary sex characteristics • Maldeveloped Ovaries (infertility; high risk of ovarian cancer) • Variety of medical problems: cardiovascular, kidney, pancreas, skeletal, thyroid: MARKED VARIABLE EXPRESSIVITY • Minor physical anomalies: webbed neck, low set ears, puffy hands and feet: MARKED VARIABLE EXPRESSIVITY Behavioral Symptoms: • Normal intelligence • Normal personality (problems of self-esteem and body image that may be associated with physical anomalies) • Lowered spatial-visualization and quantitative reasoning • ? Higher stereotypical feminine interests

Turner’s Syndrome Karyotype http: //www. genecrc. org/site/lc/lc 2 e. htm

XYY Karyotype http: //www. xyy. nl/XYYMale. gif

Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes

Gene imprinted (turned off) Gene not imprinted (turned on) D e l e t e d Maternal DNA Prader-Willi Syndrome D e l e t e d Angelman Syndrome

http: //www. ncbi. nlm. nih. gov/books/bv. fcgi? tool=bookshelf&call=bv. View. . Show. Secti on&searchterm=prader&rid=gnd. section. 182

http: //www. mgm. ufl. edu/faculty/DDriscoll. htm

Prader-Willi Syndrome Cause: • Usually caused by micro deletion in region q 11 -13 of the paternally transmitted chromosome 15. • Several genes in this region are genomically imprinted in the maternal chromosome. • Hence, if there is a paternal deletion in this region, there are no active genes. Symptoms: • Short stature • Mental retardation, learning difficulties • Decreased muscle tone • Hypogonadism • Emotional lability • Unregulated appetite or hyperphagia ( obesity)

Prader Willi Syndrome http: //www. bmb. psu. edu/faculty/simpson/lab/07 impri/pws. jpg

Tanis, a girl with PWS http: //www. bmb. psu. edu/faculty/simpson/lab/07 impri/pws. jpg

Angelman Syndrome Cause: Microdeletion of region q 11 -13 of chromosome 15 that deletes a gene(s) that is paternally imprinted. Symptoms: • Normal development until 6 -12 months, then delayed development • Disproportionate head growth microcephaly • Abnormal EEG, seizures • Marked deficit in language (no words to a few words) but better communication using nonvebral methods (e. g. , facial expressions) • Motoric problems (balance problems, ataxia of gait, hypermotoric actions) • Attention problems (short attention span) • Emotional exuberance (frequent laughter, smiling)

Angelman Syndrome http: //asclepius. com/angel/phopag. html

Angelman Syndrome http: //asclepius. com/angel/phopag 2. html