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Patau Syndrome

Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has three copies of genetic material fromchromosome 13, instead of the usual two copies. Rarely, the extra material may be attached to another chromosome (translocation).

Causes, incidence, and risk factors

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.

• Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells.

• Trisomy 13 mosaicism -- the presence of an extra chromosome 13 in some of the cells.

• Partial trisomy -- the presence of a part of an extra chromosome 13 in the cells.

The extra material interferes with normal development.

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to Trisomy 13 occur in either the sperm or the egg that forms the fetus.

Symptoms

• Cleft lip or palate

• Clenched hands (with outer fingers on top of the inner fingers)

• Close-set eyes -- eyes may actually fuse together into one

• Decreased muscle tone

• Extra fingers or toes (polydactyly)

• Hernias: umbilical hernia, inguinal hernia

• Hole, split, or cleft in the iris (coloboma)

• Low-set ears

• Mental retardation, severe

• Scalp defects (missing skin)

• Seizures

• Single palmar crease

• Skeletal (limb) abnormalities

• Small eyes

• Small head (microcephaly)

• Small lower jaw (micrognathia)

• Undescended testicle (cryptorchidism)

Signs and tests

The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:

• Abnormal placement of the heart toward the right side of the chest instead of the left

• Atrial septal defect

• Patent ductus arteriosus

• Ventricular septal defect

Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.

MRI or CT scans of the head may reveal a problem with the structure of the brain. The problem is called holoprosencephaly. It is the joining together of the two sides of the brain.

Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy.

Treatment

Treatment of children with Trisomy 13 is planned on a case-by-case basis. The type of treatment given depends on the patient's individual condition.

Support Groups

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) -- www.trisomy.org

Expectations (prognosis)

The syndrome involves multiple abnormalities, many of which are not compatible with life. More than 80% of children with trisomy 13 die in the first month.

Complications

Complications begin almost immediately. Most infants with Trisomy 13 have congenital heart disease.

Complications may include:

• Breathing difficulty or lack of breathing (apnea)

• Deafness

• Feeding problems

• Heart failure

• Seizures

• Vision problems

Teringat

suddenly... teringat kat JWC kopitiam at Mydin... iced coffee terbaik punyer...

Labour at the street

hye uols.... another story for today. Tghr td i went to my x-neighbour wedding ceremony. Yang bestnyer lauk mmg best... ada ayam madu dan lauk pun almost perfect. Undangan mmg ramai.. nak cari seat pun ssh.

Then i decided to got to Mahkota Parade. Lalu la Ayer Keroh...Mak datok..jam gila start from Petronas gas station. Mula2 tu ikut jer la jlan tu sampai kat Taman Mini Asean I decided to make a U-turn...cam dah x blh sabar dah. So ikut lebuh SPA dan masuk ker MITC... lalu bukit beruang...agak ok skit traffic kat situ. then sampai kat traffic light Hospital Melaka, Aku tgk mcm jam jer jln nk ker Banda Hilir. So, ubah arah ke Jusco Bandar...

Ingatkan problem dah settle... smpi kat traffic light Tesco tu...jam lagi..tp x lama sgt menunggu... ingat kan dah ok dah smpi Jusco...pastu problem cari parking plak. Pusing punyer pusing finally jumpa gak parking space. So, masuk Jusco trus cari kedai jam..coz my Fossil watch dah x jln..bknnyer sbb rosak..tp bateri dah weak...

Then pusing2, nmpk kedai Brands outlet... lots of t-shirt here...so I beli 3 t-shirt for RM 50... kira oklah kan...

then on the way balik, br teringat yg my sis pesan Big Mac, so pth balik ker McD Taman Buaya. dah terbyg2 dah sundae coklat and burger... yummy..finally smpi sana jer tiba2 mamat ni tggu kat drive thru.. then sowh aku buka tingkap kete..." maaf bang.. balckout lah..x pernah2 berlaku ni, lau abg nk beli abg tgu lah, parking lu kete ni" katenyer.. Aku mls lah nk tgu dan trus memecut dgn x seberapa laju... lau laju kang hbs plak org2 yg beli belacan dan cencaluk spanjang jln tu..he3... membawa perkabaran yg Big Mac xde...hu3

RIte now..she and her husband pergi kedai Pakcik SHam utk beli kueh tiaw hailam dan nasi grg cina jer.... itu pun ok...hu3