Patau syndrome

kimoblade · Post time 1-12-2007 01:38 AM

Baru2 ni adik sepupu kimo meninggal dunia selepas 2jam dilahirkan. dia disahkan doktor mengidap patau sindrom. Kimo tau byk diantara kita tak tau menahu pasal patau sindrom ni..Kimo pun baru je tau. So Kimo share kat sini..Boleh kita tambahkan pengetahuan. Sindrom ni very rare.. nisbah dia 1 dalam 15ribu kelahiran. Sbb tu ramai yg tak tau pasal ni lagi.
Anty kimo ni cukup bulan masa dia bersalin hari tu. Masa mengandung 5bulan doc dah advice supaya dia gugurkan kandungan, tapi dia taknak sbb the baby very active. Yelah, kalau kita pun anak kick sana, kick sini perut kita, sure kita ingat anak kita tu normal..
Masa 7bulan, doc skali suruh dia gugurkan kandungan sbb result from detail scan dah nampak yg anak dia takde rupa.. but my anty still dgn pendirian dia.. nak jugak lahirkan the baby.
Cukup 9bulan, dia lahirkan anak dia..baby girl and this is the 1st baby. Anak dia lahir cuma 2.1kg. dan yg paling sedih skali, dilahirkan tanpa mata, hidung dan mulut. Hidung ada sikit tapi lubang hidung takde. Masa lahit tu, kepala baby hanya sebesar mulut mug jer.. kecikkan. My anty, lps lahirkan baby tu, dia tak nak tgk..sbb dia tak sampai hati, lepas baby meninggal, my uncle pujuk2, baru dia tgk baby tu.. sedih sgt, dia kiss, gomol mcm tak mau lps.. tulah, janji tuhan.. Al-Fatihah utk baby Darisna.
Ok, kat bawah ni kimo pastekan detail2 pasal sindrom ni..

[ Last edited by kimoblade at 1-12-2007 01:43 AM ]

kimoblade · Post time 1-12-2007 01:40 AM

Definition
Patau syndrome, also called trisomy 13, is acongenital (present at birth) disorder associated with the presence ofan extra copy of chromosome 13. The extra chromosome 13 causes numerousphysical and mental abnormalities, especially heart defects. Patausyndrome is named for Dr. Klaus Patau, who reported the syndrome andits association with trisomy in 1960. It is sometimes calledBartholin-Patau syndrome, named in part for Thomas Bartholin, a Frenchphysician who described an infant with the syndrome in 1656.
Description
Childrennormally inherit 23 chromosomes from each parent, for a total of 46chromosomes. A typical human being has 46 chromosomes: 22 pairs ofnon-sex linked chromosomes and one pair of sex-linked chromosomes, thatdetermine that child's sex. Sometimes a child may end up with more than46 chromosomes because of problems with the father's sperm or themother's egg; or, because of mutations that occurred after the spermand the egg fused to form the embryo (conception).
Normally,there are two copies of each of the 23 chromosomes: one from eachparent. A condition called trisomy occurs when three, instead of two,copies of a chromosome are present in a developing human embryo. Anextra copy of a particular chromosome can come either from the egg orsperm, or because of mutations that occur after conception.
Thebest-known trisomy-related disorder is Down syndrome (trisomy 21), inwhich the developing embryo has an extra copy of chromosome 21. Patausyndrome is trisomy 13, in which the developing embryo has three copiesof chromosome 13.
An extra copy of chromosome 13 is not the onlycause of Patau syndrome. Other changes in chromosome 13, such asmispositioning (translocation), can also result in the characteristicsclassified as Patau syndrome. In these cases, an error occurs thatcauses a portion of chromosome 13 to be exchanged for a portion ofanother chromosome. There is no production of extra chromosomes, but aportion of each affected chromosome is "misplaced" (translocated) toanother chromosome.
Patau syndrome causes serious physical andmental abnormalities including: heart defects; incomplete braindevelopment; such unusual facial features as a sloping forehead, asmaller than average head (microcephaly), small or missing eyes,low-set ears, and cleft palate or hare lip; extra fingers and toes(polydactyly); abnormal genitalia; spinal defects; seizures;gastrointestinal hernias, particularly at the navel (omphalocele); andmental retardation. Due to the severity of these conditions, fewer than20% of those affected with Patau syndrome survive beyond infancy. Mostinfants with the syndrome die within the first three months of life;the average life expectancy of the survivors is about 10 years.
Genetic profile
Whenan extra copy (trisomy) of a chromosome is made, it may either be atotal trisomy (in which an extra copy of the entire chromosome ismade), or partial trisomy (in which only one part of the chromosome ismade an extra time).
In most cases of trisomy, errors inchromosome duplication occur at conception because of problems with theegg or the sperm that are coming together to produce an offspring. Inthese cases, every cell in the body of the offspring has an extra copyof the affected chromosome. However, errors in chromosome duplicationmay also occur during the rapid cell division that takes placeimmediately after conception. In these cases, only some cells of thebody have the extra chromosome error. The condition in which only someof the cells in the body have the extra chromosome is called mosaicism.
Seventy-fiveto 80 percent of the cases of Patau syndrome are caused by a trisomy ofchromosome 13. Some of these cases are the result of a total trisomy,while others are the result of a partial trisomy. Partial trisomygenerally causes less severe physical symptoms than full trisomy. Tenpercent of these cases are of the mosaic type, in which only some ofthe body's cells have the extra chromosome. The physical symptoms ofthe mosaic form of Patau syndrome depends on the number and type ofcells that carry the trisomy.
Most cases of trisomy are notpassed on from one generation to the next. Usually they result from amalfunction in the cell division (mitosis) that occurs afterconception. At least 75% of the cases of Patau syndrome are caused byerrors in chromosome replication that occur after conception. Theremaining 25% are caused by the inheritance of translocations ofchromosome 13 with other chromosomes within the parental chromosomes.In these cases, a portion of another chromosome switches places with aportion of chromosome 13. This leads to errors in the genes on bothchromosome 13 and the chromosome from which the translocated portionoriginated.
Patau syndrome occurs in approximately one in8,000-12,000 live births in the United States. In many cases,spontaneous abortion (miscarriage) occurs and the fetus does notsurvive to term. In other cases, the affected individual is stillborn.As appears to be the case in all trisonomies, the risks of Patausyndrome seem to increase with the mother's age, particularly if she isover 30 when pregnant. Male and female children are equally affected,and the syndrome occurs in all races and ethnic groups. Females withPatau syndrome, however, have a better chance of surviving past infancythan males.
Causes and symptoms
The severity andsymptoms of Patau syndrome vary with the type of chromosomal anomaly,from extremely serious conditions to nearly normal appearance andfunctioning.
Full trisomy 13, which is present in the majority ofthe cases, results in the most severe and numerous internal andexternal abnormalities. Commonly, the forebrain fails to divide intolobes or hemispheres (holoprosencephaly) and the entire head isunusually small (microcephaly). The spinal cord may protrude through adefect in the vertebrae of the spinal column (myelomeningocele).Children who survive infancy have profound mental retardation and mayexperience seizures. In a few rare cases Patau syndrome may coexistwith Klinefelter's syndrome or other chromosomal abnormalities.
Incompletedevelopment of the optic (sight) and olfactory (smell) nerves oftenaccompany the brain defects described above. The eyes may be unusuallysmall (microphthalmia) or one eye may be absent (anophthalmia). Theeyes are sometimes set close together (hypotelorism) or even fused intoa single structure. Incomplete development of any structures in the eye(coloboma) or failure of the retina to develop properly (retinaldysplasia) will also produce vision problems. Patau syndrome affectedindividuals may be born either partially or totally deaf and many aresubject to recurring ear infections.
The facial features of manyPatau syndrome-affected individuals appear flattened. The ears aregenerally malformed and lowset. Frequently, a child with trisomy 13 hasa cleft lip, a cleft palate, or both. Other physical characteristicsinclude loose folds of skin at the back of the neck, extra fingers ortoes (polydactyly), permanently flexed (closed) fingers(camptodactyly), noticeably prominent heels, "rocker-bottom foot," andmissing ribs. Genital malformations are common in individuals affectedwith Patau syndrome and include undescended testicles (cryptorchidism),an abnormally developed scrotum, and ambiguous genitalia in males, oran abnormally formed uterus (bicornuate uterus) in females.
Innearly all cases, Patau syndrome affected infants have respiratorydifficulties and heart defects, including atrial and ventricular septaldefects (holes between chambers of the heart); malformed ducts thatcause abnormal direction of blood flow (patent ductus arteriosus);holes in the valves of the lungs and the heart (pulmonary and aorticvalves); and misplacement of the heart in the right, rather than theleft, side of the chest (dextrocardia). The kidneys andgastrointestinal system may also be affected with cysts similar tothose seen in polycystic kidney disease. These defects are frequentlysevere and life-threatening.
Partial trisomy of the distalsegment of chromosome 13 results in generally less severe, but stillserious, symptoms and a distinctive facial appearance including a shortupturned nose, a longer than usual area between the nose and upper lip(philtrum), bushy eyebrows, and tumors made up of blood capillaries onthe forehead (frontal capillary hemangiomata). Partial trisomy of theproximal segment of chromosome 13 is much less likely to be fatal andhas been associated with a variety of facial features including a largenose, a short upper lip, and a receding jaw. Both forms of partialtrisomy also result in severe mental retardation.
Beyond onemonth of age, other symptoms that are seen in individuals with Patausyndrome are: feeding difficulties and constipation, reflux disease,slow growth rates, curvature of the spine (scoliosis), irritability,sensitivity to sunlight, low muscle tone, high blood pressure, sinusinfections, urinary tract infections, and ear and eye infections.

kimoblade · Post time 1-12-2007 01:41 AM

Diagnosis
Patausyndrome is detectable during pregnancy through the use of ultrasoundimaging, amniocentesis, and chorionic villus sampling (CVS). At birth,the newborn's numerous malformations indicate a possible chromosomalabnormality. Trisomy 13 is confirmed by examining the infant'schromosomal pattern through karyotyping or another procedure.Karyotyping involves the separation and isolation of the chromosomespresent in cells taken from an individual. These cells are generallyextracted from cells found in a blood sample. The 22 non-sex linkedchromosomes are identified by size, from largest to smallest, aschromosomes 1 through 22. The sex-determining chromosomes are alsoidentified. The diagnosis of Patau syndrome is confirmed by thepresence of three, rather than the normal two, copies of the thirteenthlargest chromosome.
A newer method of diagnosing trisomies thathas the advantages of speed and lower cost is the quantitativefluorescent PCR (QF-PCR) assay. QF-PCR testing allows a doctor todetermine the presence of a chromosomal abnormality within 24 hourswith a very high degree of accuracy.
Treatment
Someinfants born with Patau syndrome have severe and incurable birthdefects. However, children with better prognoses require medicaltreatment to correct structural abnormalities and associatedcomplications. For feeding problems, special formulas, positions, andtechniques may be used. Tube feeding or the placement of a gastric tube(gastrostomy) may be required. Structural abnormalities such as cleftlip and cleft palate can be corrected through surgery. Special diets,hearing aids, and vision aids can be used to mitigate the symptoms ofPatau syndrome. Physical therapy, speech therapy, and other types ofdevelopmental therapy will help the child reach his or her potential.
Sincethe translocation form of Patau syndrome is genetically transmitted,genetic counseling for the parents should be part of the management ofthe disease.
Prognosis
Approximately 45% of trisomy13 babies die within their first month of life; up to 70% in the firstsix months; and over 70% by one year of age. Survival to adulthood isvery rare. Only one adult is known to have survived to age 33.
Mostsurvivors have profound mental and physical disabilities; however, thecapacity for learning in children with Patau syndrome varies from caseto case. Older children may be able to walk with or without a walker.They may also be able to understand words and phrases, follow simplecommands, use a few words or signs, and recognize and interact withothers.

mamahaqimie · Post time 1-12-2007 12:27 PM

al-fatihah...

sy rasa even tho ur anty mmg tahu about the baby's condition, tapi mother's instinct yang menyebabkan dia tanak gugurkan. yela, 1st baby lak tuh, for sure nak tgk zuriat sendiri.

starcity · Post time 1-12-2007 01:39 PM

al fatihah utk baby. sedih plak bayangkan aunty you peluk2 baby tu....

nurkasih74 · Post time 3-12-2007 01:06 AM

my friend pun wife dia pernah lahirkan baby with patau syndrome...yg buat terharu tu, sang kawan ni (lelaki), dia sibuk masuk forum n bertanya2 psl strollerlah, dan barang2 baby yg lain..nak beli kat mana, brand ape..sekali tu, dia bgtau anak dia dah meninggal...macam2 defects ada pd baby tu...so the 2nd time, diorang begitu berhati2..buat thorough check up bagai nak pastikan baby sihat. my friend kata, dia yg pembawa whatever kemaslahatan tu..

paulinevoon · Post time 3-12-2007 09:18 AM

Originally posted by kimoblade at 1-12-2007 01:38 AM
Baru2 ni adik sepupu kimo meninggal dunia selepas 2jam dilahirkan. dia disahkan doktor mengidap patau sindrom. Kimo tau byk diantara kita tak tau menahu pasal patau sindrom ni..Kimo pun baru je ...

my heartfelt condolences utk your auntie & family.. tabahkan hati

your aunt masa pregnant tu umur berapa kimo?

tak leh bayangkan cemana perasaan auntie u..

kimoblade · Post time 3-12-2007 11:04 AM

Originally posted by paulinevoon at 3-12-2007 09:18 AM

my heartfelt condolences utk your auntie & family.. tabahkan hati

your aunt masa pregnant tu umur berapa kimo?

tak leh bayangkan cemana perasaan auntie u..

Dia pregnant early this year, meaning 26 umur dia.. She younger 1yr old than me la polin.. Mmg sedih bila anak meninggal, lebih2 lagi dlm keadaan macam tu.

paulinevoon · Post time 3-12-2007 11:13 AM

Originally posted by kimoblade at 3-12-2007 11:04 AM
Dia pregnant early this year, meaning 26 umur dia.. She younger 1yr old than me la polin.. Mmg sedih bila anak meninggal, lebih2 lagi dlm keadaan macam tu.

oo muda lagi.. still a long way to go.. don't give up hope ye