Portfolio by CHRISTOPHER PINIER https://padlet.com/cp0061/31ecwqer7h1b8us4 en-us 2020-09-25 04:55:28 UTC 2025-05-17 17:51:15 UTC hello@padlet.com https://padlet.net/icons/png/1f9ec.png Whole chromosome disorder cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780058191
  • Name: Trisomy 13 (Patau syndrome)

    • Chromosome change that causes disease state: a full extra copy of chromosome 13.

    • Signs and symptoms:
      • severe intellectual disability
      • congenital heart defects
      • brain or spinal cord abnormalities
      • microphthalmia: a condition resulting in either one or both eyes being abnormally small
      • polydactyly:  a condition where individuals present extra fingers or toes on one or both of their hands and feet
      • cleft lip or palate
      • hypotonia: decreased muscle tone
      •  malformations of the kidney and urinary tract (Barakat & Butler 1987)

    • Prevalence:  In the United States, the prevalence is "approximately 0.81 per 10,000, or about 1 in 12,340 live births" (Meyer, et al. 2016)

    • Cause of the disease:  "Trisomy 13 is most commonly caused by a maternal meiotic nondisjunction" (Witters, et al. 2011)

    • Is it treatable? There is no cure for Trisomy 13 and many infants only survive the first few days or weeks. Surgery may be necessary to repair physical abnormalities such as heart defects or cleft lip and palate. Physical, occupational, and speech therapy is also used throughout the life of individuals with Trisomy 13.
    ]]>     2020-09-25 17:05:24 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780058191     Single-gene disorder cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780640878
  • Name: Fraser syndrome

    • Gene change that causes disease state: a mutation on either of the FRAS1, FREM2, or GRIP1 genes located on chromosome 4 (Dumitru, et al. 2016)

    • Signs and symptoms:
      • abnormalities of the genitalia and urinary tract
      • abnormalities of the respiratory tract
      • cryptophthalmos: fused eyelids
      • syndactyly: fusion of the skin between the fingers and toes
      • renal agenesis: nondevelopment of either one or both kidneys
      • umbilical hernia:  a part of the intestine protrudes through the abdominal muscles near the belly button 
      • abnormalities of the nose and ear
      • cleft lip and palate
      • skeletal abnormalities
      • intellectual disability

    • Prevalence: 0.2 in 100.000 birth (including stillbirth) in the European population (Tessier, et al. 2016)

    • Cause of the disease:
      • The FRAS1 gene encode proteins of the extracellular matrix that that play an essential role for the adhesion between the basement membrane of the epidermis and the connective tissues of the dermis during embryological development (Dumitru, et al. 2016).
      • The GRIP1 gene codes for the GRIP1 protein, which ensures that the FRAS1 and FREM2 proteins get to the correct location of the cell to work together (Schanze, et al. 2013).
      • Mutations in any of these genes result in the abnormal development of certain organs and tissues.

    • Is it treatable? There is no cure for Fraser syndrome, however some malformations, such as the cleft lip and palate, can be corrected with surgery. Other treatments depend on the presence and severity of symptoms in each individual.
    ]]>     2020-09-25 19:57:14 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780640878     Chromosomal aberration cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780659087
  • Name: 17q12 deletion syndrome

    • Gene change that causes disease state: the deletion of 1.4 million base pairs on chromosome 17, at the position q12. The deletion of two genes, in particular, HNF1B and LHX1, seems to be mainly responsible for the symptoms exhibited.

    • Signs and symptoms: symptoms vary widely, but the most common ones include:
      • structural or functional abnormalities of the kidney and urinary tract
      • maturity-onset diabetes of the young type 5 (MODY5)
      • neurodevelopmental disorders (particularly speech and language delays)
      • neuropsychiatric disorders (such as schizophrenia, bipolar disorder, and autism spectrum disorder)
      • subtle differences in facial features
      • Some females are affected by an underdevelopment or absence of the vagina and uterus, known as Mayer-Rokitansky-Küster-Hauser syndrome

    • Prevalence:  1 in 14,500 people in Iceland (Mitchel 2016)

    • Cause of the disease:  
      • the loss of the HNF1B gene seems to be implicated in kidney and urinary tract abnormalities, as well as pancreatic abnormalities responsible for the development of diabetes
      • "HNF1B is expressed in multiple fetal tissues and has an important role during several stages of nephrogenesis, including ureteric bud branching and tubular development " (Clissold, et al. 2014)
      • LHX1 seems to contribute to intellectual disability, as well as behavioral and psychiatric conditions (Clissold, et al. 2016) , and Mayer-Rokitansky-Küster-Hauser syndrome (Bernardini, et al. 2009)

    • Is it treatable? There is no cure for this syndrome, and treatments depend on the presence and severity of symptoms in each individual.
    ]]>     2020-09-25 20:05:23 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780659087     Sources cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780669448
  • Barakat, A Y, and M G Butler. “Renal and Urinary Tract Abnormalities Associated with Chromosome Aberrations.” The International Journal of Pediatric Nephrology, U.S. National Library of Medicine, 1987, www.ncbi.nlm.nih.gov/pmc/articles/PMC6684339/.
  • Bernardini, Laura, et al. “Recurrent Microdeletion at 17q12 as a Cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome: Two Case Reports.” Orphanet Journal of Rare Diseases, BioMed Central, 4 Nov. 2009, www.ncbi.nlm.nih.gov/pmc/articles/PMC2777856/.
  • Clissold, Rhian L., et al. “HNF1B-Associated Renal and Extra-Renal Disease-an Expanding Clinical Spectrum.” Nature News, Nature Publishing Group, 23 Dec. 2014, www.nature.com/articles/nrneph.2014.232.
  • Clissold, Rhian L., et al. “Chromosome 17q12 Microdeletions but Not Intragenic HNF1B Mutations Link Developmental Kidney Disease and Psychiatric Disorder.” Kidney International, Elsevier, 24 May 2016, www.sciencedirect.com/science/article/pii/S0085253816301156.
  • Dumitru, Adrian, et al. “Fraser Syndrome - a Case Report and Review of Literature.” Maedica, Tarus Media, Mar. 2016, www.ncbi.nlm.nih.gov/pmc/articles/PMC5394498/.
  • Meyer, Robert E, et al. “Survival of Children with Trisomy 13 and Trisomy 18: A Multi-State Population-Based Study.” American Journal of Medical Genetics. Part A, U.S. National Library of Medicine, Apr. 2016, www.ncbi.nlm.nih.gov/pmc/articles/PMC4898882/.
  • Mitchel, Marissa W. “17q12 Recurrent Deletion Syndrome.” GeneReviews® [Internet]., U.S. National Library of Medicine, 8 Dec. 2016, www.ncbi.nlm.nih.gov/books/NBK401562/.
  • “Online Mendelian Inheritance in Man (OMIM).” OMIM, www.omim.org/.
  • Reichold, Markus, et al. “Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.” Journal of the American Society of Nephrology : JASN, American Society of Nephrology, July 2018, www.ncbi.nlm.nih.gov/pmc/articles/PMC6050927/.
  • Schanze, Denny, et al. “Fraser Syndrome Due to Mutations in GRIP1-Clinical Phenotype in Two Families and Expansion of the Mutation Spectrum.” Wiley Online Library, John Wiley & Sons, Ltd, 19 Dec. 2013, onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.36343.
  • Tessier, Aude, et al. “Fraser Syndrome:Features Suggestive of Prenatal Diagnosis in a Review of 38 Cases.” Obstetrics and Gynecology, John Wiley & Sons, Ltd, 9 Dec. 2016, https://obgyn.onlinelibrary.wiley.com/doi/abs/10.1002/pd.4971
  • “Trisomy 13 - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, https://ghr.nlm.nih.gov/condition/trisomy-13
  • Witters, G, et al. “Trisomy 13, 18, 21, Triploidy and Turner Syndrome: the 5T's. Look at the Hands.” Facts, Views & Vision in ObGyn, Universa Press, 2011, www.ncbi.nlm.nih.gov/pmc/articles/PMC3991414/.
    • ]]>     2020-09-25 20:10:17 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780669448     Mitochondrial disorder cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780751812
  • Name: Fanconi renotubular syndrome-1 (FRTS1) 

    • Gene change that causes disease state: a heterozygous mutation in the GATM gene, located on chromosome 15 (Online Mendelian Inheritance in Man)

    • Signs and symptoms:
      • a general tendency toward dehydration
      • polydipsia: excessive thirst
      • polyuria (excessive urination, usually more than 3 litres a day) with phosphaturia (when the phosphates become visible as turbidity, deposit, or as crystals visible microscopically)
      • glycosuria: presence of glucose in the urine
      • aminoaciduria: abnormal amounts of amino acids in the urine
      • hypophosphatemic rickets (bones become painfully soft and bend easily, due to low levels of phosphate in the blood) or osteomalacia (marked softening of your bones, most often caused by severe vitamin D deficiency)
      • renal acidosis: the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic.
      • As the disorder progresses, some people eventually develop renal insufficiency, a condition where the kidneys lose the ability to remove waste and balance fluids. 

    • Prevalence: Unknown

    • Cause of the disease: the GATM gene encodes glycine amidinotransferase (GATM), an enzyme present in the kidneys. Mutations in this gene  "trigger intramitochondrial fibrillary deposition" of GATM and lead to elongated and abnormal mitochondria" (Reichold, et al. 2018). This could, in turn, "initiate a response from the inflammasome, with subsequent development of kidney fibrosis". (Reichold, et al. 2018)

    • Is it treatable? Treatments depend on the presence and severity of symptoms in each individual. Individuals with kidney failure will require a transplantation, in which case it will be curative. 
    ]]>     2020-09-25 20:52:18 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/780751812     Common trait: Kidney defects cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/781007984
    Other similarities: 

    Three of the disorders presented here, that is, Trisomy 13, Fraser syndrome, and the 17q12 deletion syndrome, have the following similarities in common:
    • Physical abnormalities is another one of the most common traits shared by  all of these disorders 
    • neurodevelopmental disorders and intellectual disability
    ]]>     2020-09-26 01:09:40 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/781007984     Trisomy 13 (Patau syndrome) cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/960353957 2020-11-25 16:16:33 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/960353957 Fraser syndrome cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/960363130 2020-11-25 16:19:31 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/960363130 17q12 deletion syndrome cp0061 https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/960381150 high forehead, high arched eyebrows, long philtrum, long face, and anteverted nares 

    NOT SURE IF I SHOULD ADD THIS]]>     2020-11-25 16:24:57 UTC https://padlet.com/cp0061/31ecwqer7h1b8us4/wish/960381150