https://padlet.com/hnb002/mntqd6743ngrqxb2 Project Goal: using a particular trait or disease sign or symptom, compile a mini-portfolio of cases where the affected individual expresses the affected trait. Include one whole chromosome disorder, one chromosomal aberration, one mitochondrial or chloroplast disorder, and one single-gene (nuclear gene) disorder. en-us 2021-10-05 21:35:52 UTC 2021-12-07 17:23:20 UTC hello@padlet.com hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794840394 This occurs from error in formation of egg and sperm cell before conception. The loss of an X chromosome is sporicidal and usually not inherited. This is usually common in females and causes them to have either just one X chromosome rather than two or just have half of an X chromosome. When one whole chromosome is absent this is also referred to as monosomy. When there's only half of the X chromosome it can persist in one cell while other cells can still contain both X chromosomes, This is referred to as Mosaic Turner Syndrome. Both of which contain important genetic information for correct development.   The SHOX gene positioned on pseudo autosomal region 1 of X and Y chromosomes is to be the common missing factor that result in body dysmorphia and abnormality's. It also effects the X chromosome gene TIMP1 with TIMP3 on chromosome 22 by increasing the risk of bicuspid aortic valve and dilation.  (2)]]> 2021-10-06 00:56:41 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794840394 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794853588 Variations:
45,X
45,X/46,XX
46,XY/45X

]]> 2021-10-06 01:02:15 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794853588 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794918353 Autosomal recessive disorder that is caused by mutation of both allele genes for PAH which is found on chromosome 12. It is an Inherited error of the metabolism that is caused by the deficiency in phenylalanine hydroxylase. (3)
 ]]> 2021-10-06 01:27:57 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794918353 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794918704 Caused by the large deletion of a single mtDNA which is the direct loss of genes that are essential for mitochondrial formation and the process of oxidative phosphorylation. This syndrome is not inherited but instead arises from mutation in cell body's that form after conception. (5)]]> 2021-10-06 01:28:06 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794918704 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794919486 47, XXY]]> 2021-10-06 01:28:24 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794919486 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794963572 Patients presenting with Turner Syndrome show symptoms of wide, web-like necks, low set ears, a high and narrow soft palate, arms that turn outward at the elbows, as well as fingernails and toenails that are narrow and turned upward. Patients may also experience developmental abnormalities in reproductive organs that may cause infertility, a lack of pubic hair, as well as a lack of a menstrual cycle. ]]> 2021-10-06 01:45:59 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1794963572 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795173173 Women are specifically affected by Turner Syndrome
40-50% of women with 45,X karyotype
15-25% have mosaicism with 45,X/46,XXX
20% have isochromosome
10-20% of women have varying number of Y chromosome material 
3% have 45,X/46,XY 
(2)]]> 2021-10-06 03:07:27 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795173173 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795203046 Patients presenting with Phenylketonuria (PKU) may show symptoms such as odor (of the skin, mouth, or urine), neurological deficits, seizures, skin rashes, fair skin and eyes, hyperactivity, as well as some psychiatric disorders. 

Pregnant patients are at risk of developing the condition maternal PKU which can cause high blood phenylalanine levels which can cause serious complications in infants such as low birth weight, delayed development, facial abnormalities, heart defects, intellectually disabilities, and behavioral issues.]]> 2021-10-06 03:20:05 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795203046 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795204388 Patients suffering from Kearns-Sayre syndrome usually begin to present with symptoms before the age of 20. Patients with this syndrome experience two different eye conditions, progressive external ophthalmoplegia (weakness or paralysis of the eyes) and pigmentary retinopathy which may cause loss of vision. Patients may also present with any one of the following symptoms; cardiac conduction defects, ataxia, or abnormally high levels of protein in the cerebrospinal fluid. Individuals are often shorter in height and may also experience muscle weakness in limbs, deafness, kidney problems, or dementia. (5)]]> 2021-10-06 03:20:40 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795204388 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795204607 Klinefelter syndrome is a chromosomal condition present only in males. Patients are most commonly tall and experience infertility, primary testicular insufficiency, gynecomastia, decreased muscle mass, decreased bone density, and less facial and body hair. Some patients may also present with cryptorchidism, hypospadias, or a micropenis. Individuals may also suffer from anxiety, depression, impaired social skills, behavioral issues, ADHD, and poor executive function. 10% of patients are also diagnosed with autism spectrum disorder. Children that are diagnosed with Klinefelter may also have hypotonia, problems with coordination, learning disabilities.]]> 2021-10-06 03:20:46 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795204607 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795204780 2021-10-06 03:20:51 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1795204780 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797604233 National Center for Biotechnology Information (US). (1998, January 1). Phenylketonuria. Genes and Disease [Internet]. Retrieved October 6, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK22253/. ]]> 2021-10-06 19:28:28 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797604233 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797609036  Gravholt, C. H., Viuff, M. H., Brun, S., & Stochholm, K. (2019, June). (PDF) Turner Syndrome: Mechanisms and management. ResearchGate. Retrieved October 6, 2021, from https://www.researchgate.net/publication/333860267_Turner_syndrome_mechanisms_and_management. ]]> 2021-10-06 19:30:52 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797609036 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797612151 Somatropin (r-DNA) for injection: 
Humatrope- for treatment of short stature and SHOX deficiency.
Nutropin AQ- for treatment of growth failure
(7)
 ]]> 2021-10-06 19:32:22 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797612151 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797679044


The mutation of PAH gene causes low levels of the enzyme phenylalanine hydroxylase resulting in low levels of phenylalanine in an individuals diet. The low levels express that this person cannot metabolize phenylalanine and is subjected to toxic buildup within the body causing PKU.
Inborn error in aminoacidic metabolism is what results in the gene mutation of PAH. The mutations can be either neutral in respect to phenotype or it can be pathogenic in result of disruption to the enzyme structure which in turn effects the function. There are multiple diseases that cause mutation in PAH gene seen in all 13 exons. Examples of this are missense mutation which result in 62% of of PAH affected alleles, small/large deletions make up 13%, and splicing defects 11%.  (1)





]]> 2021-10-06 20:06:14 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797679044 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797679772 Most common treatment for Phenylketonuria is having a strict diet and specifically eating food with a low amounts of PHE. Sapropterin (Kuvan)- December 2014 approved to help reduce blood PHE levels in patients with HPA due to BH4- responsive PKU. (to be used with PHE-restricted diet)
Pegvaliase (Palynziq)- May 2018 approved for the reduction of blood PHE concentrations in adults that have uncontrolled blood PHE concentrations greater than 600 mm/L. 
(8)]]> 2021-10-06 20:06:37 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797679772 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797686842 2021-10-06 20:09:54 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797686842 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797687215 2021-10-06 20:10:06 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797687215 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797687713 2021-10-06 20:10:23 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797687713 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797786365 Occurs at random during formation of reproductive cells by an error in the cell division referred to as nondisjunction. This nondisjunction results in the reproductive cells having an odd number of chromosomes. The syndrome is due to the single extra copy of the X chromosome that give it the 47 per cell. This is usually a sex chromosome disorder in men.  (4)]]> 2021-10-06 21:05:28 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797786365 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797820699 Estimated that 1-3 people per 100,00 will develop Kearns-Sayre Syndrome. The exact number affected is unknown. (5)]]> 2021-10-06 21:26:51 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797820699 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797821306 Affects 1 in every 500 newborn boys. Considered the most common sex chromosome disorders, but variation of Klinefelter are rare, only occurring in 1 in 50,000 to 1 in 85,00 newborns. (6)]]> 2021-10-06 21:27:11 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797821306 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797821535 Testosterone  Replacement 
Breast removal or reduction surgery
Educational interventions
Therapy for speech, physical, behavioral, mental.
(6)]]> 2021-10-06 21:27:20 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797821535 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797821867 Implant of cardiac pacemakers- for cardiac conduction blocks
eyelid slings- severe ptosis
Cochlear implants-for neurosensory hearing loss
Hormone replacement - for endocrinopathies
Dilation of upper esophageal sphincter- to alleviate cricopharyngeal achalasia
Folinic Acid- individuals with low cerebral spinal fluid folic acid
(5)


]]> 2021-10-06 21:27:33 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797821867 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797824415 As addressed in the Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: Systematic review and meta-analysis, the Worldwide prevalence of PKU is six people per 100,00 births. Estimates of different countries range from 38 people per 100,000 in turkey to being a low of 0.3 per 100,000 in Thailand. (3)]]> 2021-10-06 21:29:07 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797824415 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797928878 Williams, R. A., Mamotte, C. D. S., & Burnett, J. R. (2008, February 29). Phenylketonuria: An inborn error of phenylalanine metabolism. The Clinical biochemist. Reviews. Retrieved October 6, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317/. ]]> 2021-10-06 22:38:02 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797928878 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797954323 U.S National Library of Medicine. (2020, September 8). Klinefelter Syndrome. MedlinePlus. Retrieved October 6, 2021, from https://medlineplus.gov/genetics/condition/klinefelter-syndrome/#causes. ]]> 2021-10-06 22:56:36 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797954323 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797961257 U.S. Department of Health and Human Services. (2014, December 12). Kearns-Sayre syndrome. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome#:~:text=Most%20cases%20of%20Kearns-Sayre%20syndrome%20are%20not%20inherited%3B,this%20condition%20is%20inherited%20in%20a%20mitochondrial%20pattern. ]]> 2021-10-06 23:01:22 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797961257 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797973920 U.S. Department of Health and Human Services. (2015, October 13). Klinefelter syndrome. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/8705/klinefelter-syndrome. ]]> 2021-10-06 23:11:11 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797973920 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797985449 U.S. Department of Health and Human Services. (2016, January 11). Turner syndrome. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome. ]]> 2021-10-06 23:19:46 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797985449 hnb002 https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797991636 U.S. Department of Health and Human Services. (2021, February 1). Phenylketonuria. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria. ]]> 2021-10-06 23:24:10 UTC https://padlet.com/hnb002/mntqd6743ngrqxb2/wish/1797991636