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Chromosom
Kromosom manusia dibedakan dalam 2 tipe, yaitu Autosom* dan Kromosom seks**. Dari 46 kromoson didalam inti sel tubuh manusia , maka 44 buah atau 22 pasang merupakan autosom, dan sepasang seks kromoson dibedakan atas 2 macam yaitu Kromosom X dan Kromosom Y.
Perempuan homogametic (XX) Laki-laki heterogametic (XY)
*Kromosom yang tiada hubungan dengan penetuan jenis kelamin **Sepasang kromosom yang menentukan jenis kelamin
disebabkan oleh adanya abnormalitas satu atau beberapa gen atau chromosom.
2. 3. 4.
Homologs
C
From Dad
D
From Mom
X-linked dominant trait Misal: Hypophosphatamia, X-linked recessive trait Misal: Hemophilia A, Duchenne muscular dystrophy, Color blindness,
Muscular dystrophy, Androgenetic alopecia and also includes G6PD deficiency.
Y-linked Misal: Male infertility Mitochondrial (also known as maternal inheritance), Misal: Lebers Hereditary Optic Neuropathy
Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial conditions to their children
A mitochondrial gene disease is transmitted : solely by women. to all her descents. Often the genetic defect is not present in allbut in a fraction only of mitochondria transmitted to the next generation; then according to the number of gene mutations in mitochondria. variable expressivity.
PATHOLOGY
Normal RBC has a flexible, round shape RBC w/HbS has a normal shape until its O2 delivered to
tissue, then sickle shape occurs Stiff, non-pliable cant flow freely Trapped in small vessels = causes vaso-occlusions, tissue ischemia and infarctions painful episodes, most common area is joints Hemolysis of RBC- lifespan down to 20 days Compensatory mechanism is increased reticulocytes
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disease that affects the entire body, causing progressive disability and early death. Cystic fibrosis is one of the most common lifeshortening, childhoodonset inherited diseases. In the United States, 1 in 3900 children are born with CF Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms.
vision deficiency, in humans is the inability to perceive differences between some or all colors that other people can distinguish. It is most often of genetic nature, but may also occur because of eye, nerve, or brain damage, or due to exposure to certain chem Color blindness is usually classed as disability; however, in selected situations color blind people may have advantages over people with normal color vision. It is a Xlinked Recessive genetic disorder.icals.
Color Blindness
Normal
Abnormal sex chromosomal inheritance. a. Female with Turner (XO) syndrome, which includes a web neck, short stature, and immature sexual features. b. A male with Klinefelter (XXY) syndrome, which is marked by small testes and breast development in some cases.
45,X (XO)
Turner syndrome
Phenotypic female, gonadal dysgenesis and sexual immaturity after puberty, infertility
XXY
Klinefelters syndrome
Phenotypic male, gonadal dysgenesis and sexual immaturity after puberty, infertility
XYY (XXYY)
XYY syndrome
Cleft Lip/Palate
May present as single defect or combined Non-union of tissue and bone of upper lip and hard/soft palate during fetal development CL-failure of nasal & maxillary processes to fuse at 5-8 weeks gestation CP-failure of palatine planes to fuse 7-12 weeks gestation Cleft interferes with normal anatomic structure of lips, nose, palate, muscles depending on severity and placement Open communication between mouth and nose with cleft palate
done by 1 year so speech will not be affected Protect suture lines- priority Monitor for infection
Pain Management Cleft Palate starts feedings 48-hour post-op: Clear and advance to soft diet No straws, pacifiers, spouted cups Rinse mouth after feeding
HIRSHSPRUNGS
Aganglionic megacolon
No ganglion cells at affected area usually at rectum/proximal portion of lower intestine Absence of peristalsis leads to intestinal distension, ischemia & maybe enterocolitis
Treatment
Mild-mod: stool softeners & rectal irrigations Mod-severe: single or 2-step surgery Colostomy with later pull-through
Photo Source: Del Mar Image Library; Used with permission
4. Cytogenetic Disorders:
These may be from alterations in the number or structure of the chromosomes and may affect autosomes or sex chromosomes. E.g. Fragile X chromosome. It is characterized by mental retardation and an inducible cytogenetic abnormality in the X chromosome. It is one of the most common causes of mental retardation. The cytogenetic alteration is induced by certain culture conditions and is seen as a discontinuity of staining or constriction of in the long arm of the Xchromosome. Other disorders include Downs Syndrome in which the number of chromosomes is increased by a third 21st chromosome and hence a total of 47 chromosomes occur.
Fragile X Syndrome
Males outnumber females by about 25% in institutions for the mentally retarded. In some of these males, the X chromosome is nearly broken, leaving the tip hanging by a flimsy thread. These males are said to have fragile X syndrome Fragile X syndrome occurs in one in 1,000 male births and one in 2,500 female births. As children, fragile X syndrome individuals appear to be normal except they may behyperactive or autistic. Their speech is delayed in development and is often repetitive in nature. As adults, they are short in stature with a long face. The jaw is prominent, and there are big, usually protruding ears Malesalso have large testicles. Stubby hands, lax joints, and a heart defect may also be seen. The symptoms, including mental retardation, are not as severe in females.
Trisomy
Faktor umur ketika melahirkan juga berpengaruh, misalnya pada Kasus Sindroma Down trisomi 21, biasanya lahir sebagai anak terakhir keluarga besar, atau dari usia ibu yang lanjut, nondisjunction terjadi pada meiosis I menghasilkan ovum yang mengandung 2 buah autosom nomor 21 dan bila ovum ini dibuahi oleh sperma normal yang membawa nomor 21 maka terbentuklah zigot trisomi 21
Non-disjunction
Down Syndrome
Nondisjunction of chromosomes during meiosis. a. Nondisjunction can occur during meiosis I if homologous chromosomes fail to separate and b. during meiosis II if the sister chromatids fail to separate completely. In either case, certain abnormal gametes carry an extra chromosome (n 1) or lack a chromosome (n 1).
Down syndrome occurs when the egg has an extra chromosome 21 due to nondisjunction in either meiosis I or meiosis II. Characteristics include a wide, rounded face and narrow, slanting eyelids. Mental retardation to varying degrees is usually present.
Downs Syndrome
Most common cause of cognitive
impairment (moderate to severe) 1 in 600 live births Risk factor- pregnancy in women over 35 yrs old Cause - extra chromosome 21 (faulty cell division) Causes change in normal embryogenesis process resulting in:
Cardiac defects, GI conditions, Endocrine disorders, Hematologic abnormalities, Dermatologic changes
profile, broad flat nose, small mouth, protruding tongue, low set ears, transverse palmar creases, hypotonia
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Talipes (Clubfoot)
Most common type is when foot is pointed
downward and inward Often associated with other disorders May be due to decreased movement in utero Treatment requires surgical intervention Serial casting is begun shortly after birth and usually lasts for 8-12 weeks Priority nursing interventions are skin care and facilitating normal growth and development
fragility of bones Pathologic fractures occur easily Incidence of fractures decrease at puberty related to increased hormones making bones stronger Treatment is supportive: careful handling of extremities, braces, physical therapy, weight control diet, stress on home safety Surgical techniques for correcting deformities and for intermedullary rodding
Spina Bifida:
Occulta and Cystica
(meningocele and myelomeningocele)
Etilogy is unknown, but genetic &
environmental factors considered. Maternal intake of folic acid Exposure of fetus to teratogenic drugs The severity of clinical manifestations depend on the location of the lesion. T12 - flaccid lower extremities, sensation, lack of bowel control and dribbling urine S 3 and lower - no motor impairment Other complications may occur. Hydrocephalus (80-90%) Orthopedic issues such as scoliosis, kyphosis, club foot Urinary retention Skin breakdown/Trauma
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CONCLUSION
A genetic disorder is a disease caused in whole or in part by variation or mutation of a gene.
May or may not be heridetary. Currently about 4,000 genetic disorders are known, with more being discovered.
Reff
http://learn.genetics.utah.edu/units/disorders/whatare
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