Aberasi Kromosom - Aneuploid pada Manusia

Kelainan jumlah kromosom pada manusia akan menimbulkan kelainan dan gangguan yang menyebabkan penderitanya tidak normal. Trisomi pada manusia bisa terjadi pada autosom maupun pada kromosom seks. Beberapa diantaranya adalah sindrom Down, Turner, dan Klinefelter.

Sindrom Down (mongolisme). Kelainan sindrom Down pertama kali ditemukan oleh Langdom Down pada tahun 1866. Penderita memiliki ciri-ciri tubuh pendek, mata sipit, tengkorak lebar dan pendek, lubang hidung besar, lidah besar dengan alur yang khusus, jari pendek dan besar, telapak tangan berkerut, dan lemah ingatan. Penderita sindrom Down memiliki dua kromosom nomor 12 sehingga kariotipenya menjadi (47, +21) atau jumlah kromosomnya menjadi 47. Ketidaknormalan ini lebih banyak terjadi pada kehamilan ibu-ibu yang usianya lebih tua dibandingkan dengan kehamilan pada ibu yang usianya lebih muda. Keterangan lebih jauh bisa di lihat di Down Syndrome International Research

Bayi Penderita Sindrom Down

Kariotipe penderita Sindrom Down (wanita)

Sindrom Turner (45, X).
Kromosomnya terdiri dari 44 autosom dan 1 kromosom X, ditemukan pertama kali oleh H.H. Turner pada tahun 1938 di Amerika Serikat. Sindrom Turner terjadi dengan frekuensi 1 diantara 2500 bayi wanita dan 90% mengalami keguguran spontan. Terjadi karena ovum yang tidak mengandung kromosom X dibuahi sperma X. Wanita sindrom Turner tidak memiliki ovarium, steril, ciri kelamin sekunder terbatas, tubuh pendek, dan letak telinga agak ke bawah. 

Sindrom Turner. Lihat lipatan kulit di leher.

Kariotipe Sindrom Turner

 

Sindrom Klinefelter (47, XXY). 

Adanya penambahan kromosom X ekstra terhadap kromosom XY menyebabkan seorang laki-laki berkariotipe (47, XXY). Kelainan genetis ini pertama kali ditemukan oleh Klinefelter pada tahun 1942, dengan frekuensi 1 diantara 500 kelahiran bayi laki-laki. Penderita sindrom ini mempunyai fenotipe tetapi ada kecenderungan memiliki ciri kelamin sekunder wanita, yaitu bulu badan tidak tumbuh, testis dan kelenjar prostat kecil, payudara membesar karena timbunan lemak, gaya mirip wanita, intelegensi kurang, kaki dan lengan nampak lebih panjang.

Kariotipe Sindrom Klinefelter

Penderita Sindrom Klinefelter

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Sakura Rock

10th Ending Theme Katekyoushi Hitman Reborn!

By Cherryblossom

Romaji

aitakute koishikute hanarete
ano hi wa mou konai

toushin dai no jibun tooku no kimi ni te o furou agero
PUT YOUR HANDS UP. YEAH. OH.

awai kaori ga tadayou kisetsu ga meguri kuru
kokoro hazumaseteita koro ga ima yomigaeru yo
hajimete koi o shitanda nanimo kamo kagayaiteita
sukoshi no jikan de sae mo issho ni toki o kizandeita

sakura saita ki no shita de kimi no koe o
harukaze ga jamashite kikoe nai
sayonara janai to negatta

aitakute koishikute hanarete
ano hi no egao ga maichitte
itsumade mo to chikatta kimi wa mou inai
kanau nara sakura ga maioriru rainen no ima mo
kata narabe shashin demo toritai na ano hi wa mou konai

aitai mienai te no hira
hora hanabira sora ni hikaru hoshi ga
kizuguchi o tsuzukun da
mou koi nante shinai yo
kimi ni ichiban ii takatta

ame ga futte futanin de haitta kasa mo
machiawase shita ano eki mo
mou hitori ja ikitaku nai yo

suki datta kakokei na tegami wa imasara iranai
wakaregiwa yasashiku suru nara soba ni ite hoshii
kuru hazu no nai basho de ano hi o matteru
hitori bocchi no boku o
omoide no ano kyoku o chiisai koe de utau

mou koi nante shinai yo nante tada no uso de
mou wasurerare nai nante tada no joudan de
wasuretaku nakute kekkyoku kimi ni koishite itai yo

aitakute koishikute hanarete
ano hi no egao ga maichitte
itsumade mo to chikatta kimi wa mou inai

RAJIO kara ano kyoku futanin de ita heya de
shizen to namida ga afurederu
wakaregiwa no egao ga ichiban itoshiku mieta

sakase you sakura ga maiorite
yowai jibun kara nukedaseru
namida no oto kanaderu senritsu o utau
RAJIO kara haru no uta mou sonna kisetsu ne
sayonara o gutto nomikonda
omoide no ichi PEEJI iro azayaka ni nokoru

English Translation

I want to see you, I miss you, we’re apart
That day will never come again

My life-sized self, I’ll wave to you in the distance, raise your hand
Put your hands up. Yeah. Oh.

The season comes when you can smell something faint in the air
Now I’m reliving that time when my heart was full of life
I fell in love for the first time, everything was shining back then
Even if it was only for a short time, we made our mark together

Beneath the blooming cherry blossom trees
The spring breeze blows and I can’t hear your voice
I prayed you weren’t saying goodbye

I want to see you, I miss you, we’re apart
That day’s smiles flutter to the ground
You promised it would last forever but you’re not here anymore
If my wish comes true then cherry blossoms will fall again next year
I want to take a photo side by side, that day will never come again

I want to see you, I can’t see what’s in my palm
See? A petal, the stars that shine in the sky
Just poke at my wounds
What I wanted to tell you the most
Was that I’d never fall in love again

That station where we’d meet
And hide under an umbrella in the rain
Is a place I can’t go to by myself anymore

“I loved you,” I don’t need a letter with that past tense phrase
If you’re kind when we break up, I’ll want you to stay with me
I’ll be all alone in a place where you’ll never return
Waiting for that day
And sing that nostalgic song in a quiet voice

Saying that I’d never fall in love again was a lie
And I was joking when I said I couldn’t forget you
In the end, I don’t want to forget you, I want to love you

I want to see you, I miss you, we’re apart
That day’s smiles flutter to the ground
You promised it would last forever but you’re not here anymore

I’m in our room as the radio plays that song
And the tears begin to pour on their own
The smile on your face as you left is what I miss the most

Let’s make the cherry blossoms bloom and fall
I can escape my weak self
I’ll sing a melody with the sound of tears
A spring song plays on the radio, it’s that time of the year again
I’ve accepted your goodbye
A page in my memories will always be colored bright

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Ketsui no Asa ni

Douse nara mou
Hetakuso na yume wo egaite ikou yo
Douse nara mou
Hetakuso de akaruku yukai na ai no aru yume wo
“Kidon nakute ii
Kakkotsuke nai hou ga omaerashii yo”

Isshoukenmei ni nareba naru hodo
Karamawari shite shimau bokura no tabiji wa
Shougakusei no
Te to ashi ga issho ni dechau koushin mitai
Sore mo mata iin ja nai?
Ikite yuku koto nante sa
Kitto hito ni warawareru kurai ga
Choudo iin da yo

Kokoro no oku no oku
Tojikometeta hontou no boku
Namami no san-juu-roku do gobun
Kazarazu ni iza we don't stop
Kedo mada tsuyogatterun da yo
Mada baria wo hatterun da yo
Itami to tatakatterun da yo

Tsurai toki tsurai to ietara ii no ni naa
Boku-tachi wa tsuyogatte warau yowamushi da
Sabishii no ni heiki na furi wo shite iru no wa
Kuzure ochite shimai sou na
Jibun wo mamoru tame na no sa

Boku dake ja nai hazu sa
Ikiba no nai kono kimochi wo
Ibasho no nai kono kodoku wo
Kakaete iru no wa...

Hito no itami ni wa mukanshin
Sono kuse jibun no koto to naru to fuan ni natte
Hito wo kiratte
Fukou na no wa jibun dakette omottari
Ataerare nai koto wo tada nageite
San sai ji no you ni wameite
Ai toiu na no oyatsu wo suwatte matteru boku wa
ASUFARUTO no terikaeshi ni mo makezu ni
Jibun no ashi de aruiteku hitotachi wo mite omotta
Ugokaseru ashi ga aru nara
Mukaitai basho ga aru nara
Kono ashi de aruite yukou

Mou nido tohontono egao wo torimodosu koto
Dekinai kamoshirenai to omou yoru mo atta kedo

Taisetsu na hito-tachi no atatakasa ni sasaerare
Mou ichido shinjite miyou ka na to omoi mashita

Tsurai toki tsurai to ietara ii no ni naa
Boku-tachi wa tsuyogatte warau yowamushi da
Sabishii no ni heiki na furi wo shite iru no wa
Kuzure ochite shimai sou na
Jibun wo mamoru tame dakedo

Ayamachi mo kizuato mo tohou ni kure
Besokaita hi mo
Boku ga boku toshite ikitekita akashi ni shite
Douse nara korekara wa isso dare yori mo
Omoikiri hetakuso na yume wo egaite yukou
Ii wake wo katadukete doudou to mune wo hari
Jibun toiu ningen wo utai tsuduke you

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