Warkany 2 Syndrome

Day to Day People

• Her joints are very flexible so she has trouble holding a cup and has never been able to do zips or buttons” – 6 years

• “He uses signs and has some words. He doesn’t pronounce the last letters and sometimes the first letters of words” – 4 years

Physical Features

• “He feels pain in his joints and can’t walk very far and gets tired very quickly. Because of this he doesn’t really enjoy physical activities” – 51⁄2 years

• He is verbal but his understanding is very low. He can use 2-3 word sentences but he is extremely quiet and has a lisp. - 5 1/2 years

Mental Characteristics

• Vary from Mild- Severe mental retardation
• Most patients have an IQ between 50 and 75 but some have a normal intelligence (According Statistic Brain RSS. the average IQ in Canada is 97)
• Delayed articulated speech
• Some cases where part of the brain that connects the left and right hemispheres, (corpus callosum) is absent

• Deep creases in the sole of the foot (mostly in babies) and hands.
• Facial dysmorphism: such as elongation of skull, large forhead, deep set eyes (50%), broad "upturned" nose (60%)
• high-arched palate, small jaw
• low-set and/or dysplastic ears (lower set on head)
• fuller lower lip (pouting)
• droopy eyelids, opaque corneas or an inability to line up when focusing (strabismus).

Taylor, age 9. (Trisomy 8 mosiac)

"Trisomy 8 Mosaicism ." Understanding Chromosome Disorders. N.p., n.d. Web. 23 Nov. 2013. <http://www.rarechromo.org/information/Chromosome%20%208/Trisomy%208%20Mosaicism%20FTNP.pdf>.

Copy & Paste

Maiya, age 2

(Trisomy 8)

Skeletal Characteristics

SciELO - Scientific Electronic Library Online. (n.d.). SciELO - Scientific Electronic Library Online. Retrieved November 26, 2013, from http://www.scielo.br/scielo.php?pid=S0004-282X2002000300008&script=sci_arttext

• Curved spine
• Some aquire scoliosis due to joint limitations (permanent "flexion" of one/more fingers)
• Missing or underdeveloped knee caps,
• Begin walking on their tip-toes due to joint issues (can be resolved through surgery)
• Narrow pelvis and shoulders along with a long slender trunk

Dysgenesis of the corpus callosum. (n.d.). Radiopaedia Blog RSS. Retrieved November 29, 2013, from http://radiopaedia.org/articles/dysgenesis-of-the-corpus-callosum

Birth Abnormalities of the Hand and Arm. (n.d.). : Trisomy 8. Retrieved November 29, 2013, from http://congenitalhand.wustl.edu/2013/03/trisomy-8.html

Physiotherapy in Banff for Upper Back Issues. (n.d.). Physiotherapy in Banff for Upper Back Issues. Retrieved November 29, 2013, from http://www.activemotionphysio.ca/article.php?aid=5524

"Warkany Syndrome: A Rare Case Report." Warkany Syndrome: A Rare Case Report. N.p., n.d. Web. 23 Nov. 2013. <http://www.hindawi.com/crim/pediatrics/2

"Jude Wolpert Photography : Photo Keywords : maiyap : Maiya, age 2Trisomy 8." Jude Wolpert Photography : Photo Keywords : maiyap : Maiya, age 2Trisomy 8. N.p., n.d. Web. 23 Nov. 2013. <http://www.judewolpert.com/keyword/ma

"A Corneal Abnormality." NCBI. U.S. National Library of Medicine, n.d. Web. 23 Nov. 2013. <http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1041079/>.

Warkany 2 Syndrome:

• Presence of 3 full copies of chromosome 8 in all of a person's cells.
• Mosaic trisomy 8 is a portion of these cells contains three copies of chromosome 8 (may have cells in their blood/other tissues with the normal chromosome #, but may have cells in their skin with trisomy 8.
• The condition was first identified by Josef Warkany(American human geneticist, 1902-1992) in 1960's
• Nondisjunction: Trisomy 8
• Approximately 1 in 25 000- 50 000 births
• Occurs more often in males than females (5:1)
• Generally trisomy 8 is a less severe condition than others such as trisomy 13/ trisomy 18.
• People with full trisomy 8 rarely survive, so babies/children with an extra chromosome 8 are believed to be mostly mosaic
• Typical T8M baby looks just like other babies

Warkany 2, Trisomy 8 Syndrome

Caleb, a baby with Trisomy 8



shirlandyou. (n.d.). shirlandyou. Retrieved November 26, 2013, from http://shirlandyou.com/tag/trisomy-8/

Looks just like you and me when we were babies!!

By: Emily Richardson

KARYOTYPE

References

Interesting Facts

• Trisomy 8 has been associated with cancer, especially leukemia.
• Often have kidney problems
• Underdeveloped genitalia or testes
• Congenital heart problems with about 25% showing structural heart defects.

• "Mosaic Trisomy 8." Orphanet. N.p., n.d. Web. 21 Nov. 2013. <http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96061>.

• "A Corneal Abnormality." <i>NCBI</i>. U.S. National Library of Medicine, n.d. Web. 23 Nov. 2013. &lt;http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1041079/&gt;.

• "Jude Wolpert Photography : Photo Keywords : maiyap : Maiya, age 2Trisomy 8." Jude Wolpert Photography : Photo Keywords : maiyap : Maiya, age 2Trisomy 8. N.p., n.d. Web. 23 Nov. 2013. <http://www.judewolpert.com/keyword/maiyap/771921607_QWKBHgT#!i=771921607&k=QWKBHgT>.

• "MolecularCytogenetics." Chrombios Molecular Cytogenetics: FISH Service. N.p., n.d. Web. 23 Nov. 2013. <http://www.chrombios.com/cms/website.php?id=/de/index/fishservice/mouse_es_cells.htm&sid=01mrhpu03vgtr5kumjhibkltu4>.

• "Warkany Syndrome: A Rare Case Report." Warkany Syndrome: A Rare Case Report. N.p., n.d. Web. 23 Nov. 2013. <http://www.hindawi.com/crim/pediatrics/2011/437101/>.

• Characteristics of Trisomy 8. (n.d.). LIVESTRONG.COM. Retrieved November 26, 2013, from http://www.livestrong.com/article/100607-characteristics-trisomy/

• Countries with the Highest / Lowest Average IQ. (n.d.). Statistic Brain RSS. Retrieved November 24, 2013, from http://www.statisticbrain.com/countries-with-the-highest-lowest-average-iq/

"Warkany Syndrome: A Rare Case Report." Warkany Syndrome: A Rare Case Report. N.p., n.d. Web. 23 Nov. 2013. <http://www.hindawi.com/crim/pediatrics/2