Trisomy 13

Trisomy 13 (eo hape e bitsoang Patau syndrome) ke lefu la lefutso leo ho lona motho a nang le likopi tse 3 tsa liphatsa tsa lefutso tse tsoang ho chromosome 13, ho fapana le likopi tse 2 tse tloaelehileng. Nako le nako, thepa e eketsehileng e ka hokelloa ho chromosome e ngoe (translocation).

Trisomy 13 e hlaha ha DNA e eketsehileng e tsoang ho chromosome 13 e hlaha liseleng tse ling kapa ho 'mele kaofela.

• Trisomy 13: boteng ba chromosome 13 e eketsehileng (ea boraro) lisele tsohle.
• Mosaic trisomy 13: boteng ba chromosome e eketsehileng 13 liseleng tse ling.
• Trisomy 13 e arohaneng: boteng ba karolo ea chromosome e eketsehileng 13 liseleng.

Boitsebiso bo eketsehileng bo sitisa kholo e tloaelehileng.

Trisomy 13 e hlaha ho ngoana a le mong ho ba bang le ba bang ba 10 000 ba sa tsoa tsoaloa. Maemo a mangata ha a fetisoe ke malapa (a futsitsoeng). Ho fapana le moo, liketsahalo tse lebisang ho trisomy 13 li etsahala ho peo kapa lehe le etsang lesea.

Matšoao a kenyelletsa:

• Molomo o petsohileng kapa mahalapa
• Matsoho a kobehileng (ka menoana e kantle ka holim'a menoana e ka hare)
• Mahlo a haufi-ufi - mahlo a kanna a kopana ka bonngoe
• Fokotsa molumo oa mesifa
• Menoana e meng kapa menoana ea maoto (polydactyly)
• Hernias: hernia ea umbilical, hernia ea inguinal
• Sekoti, ho petsoha kapa ho petsoha ka har'a iris (coloboma)
• Litsebe tse tlase
• Bokooa ba kelello, bo matla
• Mathata a letlalo la letlalo (letlalo le sieo)
• Ho oa
• Sekhahla se le seng sa palema
• Bothata ba marapo (leoto)
• Mahlo a manyane
• Hlooho e nyane (microcephaly)
• Mohlahare o monyane o tlase (micrognathia)
• Leqheka le sa lekanyetsoang (cryptorchidism)

Lesea le ka ba le mothapo o le mong oa mothapo ha le hlaha. Hangata ho na le matšoao a lefu la pelo la tlhaho, joalo ka:

• Ho beoa ho sa tloaelehang ha pelo lehlakoreng le letona la sefuba ho fapana le la leqele
• Phoso ea septal ea atrial
• Patent ductus arteriosus
• Phoso ea septal ea Ventricular

X-rays kapa ultrasound ea meno e ka bontša ho potoloha ha litho tsa ka hare.

Lisebelisoa tsa MRI kapa CT tsa hlooho li ka senola bothata ka sebopeho sa boko. Bothata bo bitsoa holoprosencephaly. Ke ho kopanya hammoho ha mahlakore a mabeli a boko.

Boithuto ba Chromosome bo bonts'a trisomy 13, trisomy 13 mosaicism, kapa trisomy e sa fellang.

Ha ho na kalafo e khethehileng ea trisomy 13. Kalafo e fapana ho ea ka ngoana ho ea ka matšoao a itseng.

Lihlopha tsa tšehetso bakeng sa trisomy 13 li kenyelletsa:

• Mokhatlo oa Ts'ehetso oa Trisomy 18, 13 le Mathata a Amanang (SOFT): trisomy.org
• Tšepo ea Trisomy 13 le 18: www.hopefortrisomy13and18.org

Bana ba fetang 90% ba nang le trisomy 13 ba hlokahala selemong sa pele.

Mathata a qala hanghang. Boholo ba masea a nang le trisomy 13 a na le lefu la pelo le hlahileng.

Mathata a ka kenyelletsa:

• Ho phefumoloha bothata kapa ho hloka phefumoloho (apnea)
• Ho se utloe litsebeng
• Mathata a ho fepa
• Ho hloleha ha pelo
• Ho oa
• Mathata a pono

Bitsa mofani oa hao oa tlhokomelo ea bophelo haeba u bile le ngoana ea nang le trisomy 13 'me u rerile ho ba le ngoana e mong. Tlhabollo ea lefutso e ka thusa malapa ho utloisisa boemo, kotsi ea ho bo futsa, le hore na a ka hlokomela motho eo joang.

Trisomy 13 e ka fumanoa pele ho tsoalo ka amniocentesis ka lithuto tsa chromosome tsa lisele tsa amniotic.

Batsoali ba masea a nang le trisomy 13 e bakiloeng ke phetisetso a tlameha ho etsa liteko tsa lefutso le tlhabollo. Sena se ka ba thusa ho hlokomela menyetla ea ho ba le ngoana e mong ea nang le boemo bona.

Patau lefu

• Polydactyly - letsoho la lesea
• Ka tumellano

Bacino CA, Lee B. Cytogenetics. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 98.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.