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http://images.google.com/imgres?imgurl=http://cmgm.stanford.edu/biochem201/Slides/Chromatin%2520Structure/15%2520EM%2520of%2520Chromatin%2520Solenoid.JPG&imgrefurl=http://cmgm.stanford.edu/biochem201/Slides/Chromatin%2520Structure/&h=738&w=496&sz=160&tbnid=5v_1MWb3-tIJ:&tbnh=138&tbnw=93&start=5&prev=/images%3Fq%3Dchromatin%2Bpicture%26hl%3Den%26lr%3D%26ie%3DUTF-8%26sa%3DN
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Chromatin: Nucleosomes & Spacer DNA
Normal male karyotype at the 650 band level.
p
q
11.3
11.2
11.1
11.2
12
21
22
23
11.3211.31
11.22
11.21
11.1
11.23
11.2
12.1
12.312.2
21.121.2
21.31 21.3221.3322.122.222.3
23
Chromosome Nomenclature
Chromosome Painting:SKY: Spectral Karyotyping
FISH: Williams SyndromeFluorescent in situ hybridization
Down’s Syndrome
http://www.bbc.co.uk/southyorkshire/myspace/dsa/index.shtml
http://www.sptimes.com/2002/05/12/TampaBay/Lifelong_devotion.shtml
Erik Nichols and mother,St. Petersburg, FL
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
http://www.dsne.homestead.com/NewParentsInfo.html
James Webster and mother, Anne
http://www.genecrc.org/site/lc/lc2e.htm
Trisomy 21 Karyotype
Turner’s Syndrome
•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
Described in 1938 by Henry TurnerCause isolated in 1960 (loss of one/part of one sex chromosome)
•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
Background:
Physical Symptoms:
Behavioral Symptoms:
Turner’s Syndrome
Turner’s Syndrome Karyotype
http://www.genecrc.org/site/lc/lc2e.htm
http://www.xyy.nl/XYYMale.gif
XYY Karyotype
Chromosomal Microdeletions:
Prader-Willi and Angelman Syndromes
PaternalDNA
MaternalDNA
Deleted
Prader-WilliSyndrome
Deleted
AngelmanSyndrome
Gene imprinted (turned off)
Gene not imprinted (turned on)
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?tool=bookshelf&call=bv.View..ShowSection&searchterm=prader&rid=gnd.section.182
http://www.mgm.ufl.edu/faculty/DDriscoll.htm
•Usually caused by micro deletion in region q11-13 of the paternallytransmitted chromosome 15.
•Several genes in this region are genomically imprinted in the maternalchromosome.
•Hence, if there is a paternal deletion in this region, there are no active genes.
•Short stature•Mental retardation, learning difficulties•Decreased muscle tone•Hypogonadism•Emotional lability•Unregulated appetite or hyperphagia ( obesity)
Cause:
Symptoms:
Prader-Willi Syndrome
http://www.bmb.psu.edu/faculty/simpson/lab/07impri/pws.jpg
Prader Willi Syndrome
http://www.bmb.psu.edu/faculty/simpson/lab/07impri/pws.jpg
Tanis, a girl with PWS
•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)
Symptoms:
Angelman Syndrome
Cause:Microdeletion of region q11-13 of chromosome 15 that deletes agene(s) that is paternally imprinted.
http://asclepius.com/angel/phopag.html
AngelmanSyndrome
http://asclepius.com/angel/phopag2.html
Angelman Syndrome