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De La Salle University - Dasmarias

BIOLOGY PROGRAM

GENETICS DISORDERS

ROQUE, JASON R. SOMEROS, KRISTINE CARL S. March 2012


Digitally signed by Jason Raquin Roque DN: cn=Jason Raquin Roque, o, ou, email=jason_mike15@yahoo. com, c=PH Date: 2012.05.16 19:47:10 +08'00'

De La Salle University - Dasmarias


BIOLOGY PROGRAM DOWN SYNDROME

Down syndrome or Down's syndrome, (also known as trisomy 21), is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th century by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844 (Gene 2005). Down syndrome was identified as a chromosome 21 trisomy by Dr. Jrme Lejeune in 1959. Down syndrome in a fetus can be identified throughchorionic villus sampling or amniocentesis during pregnancy, or in a baby at birth.

Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous conditions have been found in other species such as chimpanzees (McClure et al. 1969) and mice.

Often

Down

syndrome

is

associated

with

some

impairment

of cognitive ability and physical growth, and a particular set of facial characteristics. Individuals with Down syndrome usually have low intelligence, such as to constitute mild to moderate intellectual disability. Many children with Down syndrome who have received family support, enrichment therapies and tutoring manage to graduate from high school and college, and are able to do paid

De La Salle University - Dasmarias


BIOLOGY PROGRAM work. The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100 (Liptak 2008). A small number have a severe to high degree of intellectual disability.

Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (an abnormally small chin), (Weiss 1994) an unusually round face, macroglossia (Belfer et al. 1980) (protruding or oversized tongue), an almond shape to the eyes caused by an epicanthic fold of the eyelid, up slanting palpebral fissures (the separation between the upper and lower eyelids), shorter limbs, a single transverse palmar crease(a single instead of a double crease across one or both palms), poor muscle tone, and a larger than normal space between the big and second toes. Health concerns for individuals with Down syndrome include a higher risk for congenital heart

defects, gastroesophageal reflux disease, recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity.

Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Education and proper care will improve quality of life significantly, despite genetic limitations.

De La Salle University - Dasmarias


BIOLOGY PROGRAM PEDIGREE ANALYSIS

Male

Female

Affected Male

Affected Female

De La Salle University - Dasmarias


BIOLOGY PROGRAM PROFILE

Name: Julie Anne Yaud Age: 4 years old Gender: Female

Address: Block 17 Lot 35 Ruby Street, Diamond Village Subdivision, Brgy. Salawag, Dasmarinas City, Cavite, Philippines, 4114 Mother: Melinda Yaud Father: Jose Domingo Yaud Siblings: Mark Joseph Yaud Trisha Yaud Jejomar Yaud Johari Yaud Michaela Yaud Inna Mae Yaud Julie Anne Yaud

AFFECTED with DOWN SYNDROME 3rd Generation Julie Anne Yaud 2nd Generation Raymark Rafon 1st Generation Illuminada Castillo

De La Salle University - Dasmarias


BIOLOGY PROGRAM BALDNESS

Baldness implies partial or complete lack of hair. Balding is part of the wider topic of "hair thinning". The degree and pattern of baldness can vary greatly, but its most common cause is male and female pattern baldness, also known as androgenic alopecia, alopecia androgeneticaor alopecia seborrheica an alternative term used primarily in Europe (Rebora 2004).

Pattern balding should not be confused with alopecia areata, which commonly involves patchy hair loss. Extreme forms of alopecia areata are alopecia totalis, which involves the loss of all head hair, and the most extreme form, alopecia universalis, which involves the loss of all hair from the head and the body (Kauffman et al. 1995).

De La Salle University - Dasmarias


BIOLOGY PROGRAM PEDIGREE ANALYSIS

Male

Female

Affected Male

De La Salle University - Dasmarias


BIOLOGY PROGRAM PROFILE

Name: Eduardo Someros Age: 42 years old Gender: Male

Address: #8 Topaz Street, Las Pias Royale Estates Naga Road, Pulang-lupa Las Pias City,

Philippines, 4114 Mother: Marie Ina Someros Father: Pedro Someros Siblings: Lisa Reginales Jomari Someros Iniego Someros Marco Someros

AFFECTED with BALDNESS 3rd Generation Eduardo Someros Jomari Someros Iniego Someros Marco Someros 2 Generation Pedro Someros 1st Generation Romero Someros
nd

De La Salle University - Dasmarias


BIOLOGY PROGRAM MENTAL RETARDATION

Mental Retardation, disorder in which a persons overall intellectual functioning is well below average, with an intelligence quotient (IQ) around 70 or less. Individuals with mental retardation also have a significantly impaired ability to cope with common life demands and lack some daily living skills expected of people in their age group and culture. The impairment may interfere with learning, communication, self-care, independent living, social interaction, play, work, and safety. Mental retardation appears in childhood, before age 18. (Woods 2006) About 1 percent of the general population has mental retardation, although some estimates range as high as 3 percent. Mental retardation is slightly more common in males than in females. It occurs in people of all racial, ethnic, education, and economic backgrounds. (Woods 2006)

De La Salle University - Dasmarias


BIOLOGY PROGRAM PEDIGREE ANALYSIS

Male

Female

Affected Female

De La Salle University - Dasmarias


BIOLOGY PROGRAM PROFILE

Name: Rachel Sia Age: 17 years old Gender: Female

Address: Apollonya, Brgy. Sta. Mercedez, Patungan, Maragondon, Cavite, Philippines Mother: Baby Sia Father: Rodrigo Sia Siblings: Jayson Sia Imee Sia Jimmy Sia Joel Sia Aileen Mijare Riza Sia

AFFECTED with MENTAL RETARDATION 3rd Generation Rachel Sia 2nd Generation None 1st Generation Nida Sia

De La Salle University - Dasmarias


BIOLOGY PROGRAM REFERENCES

Gene N. 2005. Down Syndrome Through the Ages. the good old days med Gadget. Available from http://medgadget.com/2005/11/down_syndrome_t.html

McClure HM, Belden KH, Pieper WA, Jacobson CB. 1969. Autosomal trisomy in chimpanzee: Resemblance to Downs Syndrome. Science 165 (3987):1010-12. PMID 4240970.

Liptak GS. 2008. Down Syndrome: Trisomy 21; Trisomy G. Merk Manual. Available from http://www.merckmanuals.com/home/childrens_health_ issues/chromosomal_and_genetic_abnormalities/down_syndrome_trisomy _21_trisomy_g.html?qt=&sc=&alt=

Weiss M. 1994. Conditional love: Parents attitude towards handicapped children. ISBN 9780897893244. Pp. 94.

Belfer M, Lemperie G, Radu D. 1980. Facial plastic surgery in children with Down Syndrome. Pp. 343.

Rebora A. 2004. Pathogenesis of androgenetic alopecia. J Am Acad Dermatol. 50 (5): 777-9. doi:10.1016/j.jaad.2003.11.073. PMID 15097964.

Kauffman C, Pappas P, Perfect J, mcKinsey G. Bamberger D, Hamill R, Sharkey P, Chapman S, Sobel S. 1995. Alopecia associated with fluconazole therapy. Ann Intern med. 123 (5): 3547. PMID 7625624.

Woods M. 2006. Mental Retardation. Microsoft Encarta 2007. Redmond WA. Microsoft Corporation. 2006

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