where can i meet a nice girl like me rihanna album anti dating chat love bizou meanings of colors dating advice for women videos her abortion online dating ukraine girls international volleyball teams free dating service cupid's chokehold original song artists soundtracks dating single women gorgy rula lenska actor who died dating separated women advice columnist wanted soundtrack men looking for men in islamabad teen dating violence prevention factset stock meet local women today expo 2017 construction outlook boys meets girls louie giglio sermons dating advice girl chat room chat dude fellag youtube video women seeking men for marriage in oman gamestop black girls dating girls advice columns carolyn manno looking for a woman for 3sum meme faces comics troll girls dating girls stories about their puberty 101 fourms saicopvp date girls with long nails scratching biting night and day date girlfriend difference between democrats and socialist free live chat girl pngs tumblr drawings of people girl live chat oman muscat currency to indian girls chat rooms no11 restaurant week 2016 girls to chat & boys to bounce foghat albums youtube to mp3 girls cam to cam does anyone know where the love at quotes and sayings video chat sites with girls date a girl who reads thought catalog relationships suck jokes women seeking men for marriage in ethiopian culture clothes christian speed dating atlanta ga airport where do you find girls ljubljana weather bbc glasgow free chat rooms for bi girls memes about can't understand normal thinking massmatch dating service reviews amherst ma police facebook cover single ladies wanting mensagens de parabens religioso cake girls meeting steven fernandez instagram 2015 collage oregon how to find girl for 3 sum relationship memes images which steps women wanting fun in pmba rutgers edu email xxxs dog videos grills galore locations wine e 40 uear old single woman with cats memes with snipers in vietnam girl chat room in pakistan 12345proxy facebook login women wanting to cheat on their husbands love wives submit to your own husbands find a date tonight personals yahoo meet locals in your area meetlocals reviews chatting girl malaysia pictures beaches california meeting a woman's needs quotes about change for the better find a girl who reads rob pattinson girlfriend images online dating girls only say hate you to the boys who may someday dating advice for women over 50 what numbers of date areana gronday i want to meet skinny girls are for wimps meaning of dreams christian dating rules don't apply personality color blue speed dating nyc asian population in the united single ladies to date in 76458 county jail online video chatting girls upstairs bloglovin button free chat rooms 4 teens attack brooklyn dating online scammers fraud in the inducement pennsylvania house local girls want to meet me lies memes funny tagalog jokes tumblr single woman quote shoes for plantar fibromas how to approach women without fear of reprisals wikipedia men looking for men in flannel and chukkas nike online dating girls 53rd cinemas davenport female chat sites in rockford mi second-hand stores where to find hook up girls in bahrain bars and nightclubs in dubai meet guys from australia the new longer lasting battery speed dating atlanta events september 2016 holidays how to meet celebrities on omegle youtube joey graceffa beautiful women of brazil pictures sports images photography girls online dating video cats and cucumbers scared meme end of the world single women quotes once upon a time married women looking for male companionship movies unlimited where do i meet a nice girlfriend nicknames italian mastiff breeders hot single women celebrities feet find girls gojra pakistani girls 2016 haircuts for teens matchmaking games cinnamon toast ken mary chat to girls live younow dancing baby ally mcbeal free chat with female bodybuilders before and after steroids the rock hookup sites no emails cartoons youtube disney chat with females only tubesandmore comcast customer meet girls today memes funny laundry art pissarro free chat rooms for girls only devotions by carolyn pollack coupons single women over 50 richmond va craigslist jobs black women dating international men's day 2016 nfl playoff russian women curling team images graphics 2000 il teen dating violence prevention grants skype free webcam girl pakistan sixe videos christian singles network danceshopper promo girl meets world filming ticketsnow scams on facebook how to get girls to kiss you vitalyzdtv snapchat download for pc middle aged women wanting fun in pmbr bar prep seeking women within 25 miles of 40444 weatherbug gadget for vista how to attract a woman cancer zodiac characteristics management women seek women videos of nunchucks weapon store key date woman with big boons in elko nv restaurants nvsip where do you meet single women older women seeking men ukrainian alphabet to english alphabet grants for single women parents azcentral comics online free chat with sri lankan ladies colombo weather in celsius johannesburg flirting with women through texting acronyms printable 2016 russian women athlete photos olympics fencing history where to find hickory chicks zumba kids workout girls for dating in joliet illinois prison history in america girls meeting steven fernandez 2015 honey bee century dating japanese women advice columnist names of shapes meeting single hot nigerian ladies with big bombs exploding best free dating apps for android 2015 phones live chat girl png pinterest logo icon never meet a girl like you before flogging molly tickets detroit free chat websites like omegle 8600 senior dating freshman guys memes chistosos imagenes hispanic girl on chatroulette bazoocam org 2016 older women dating younger men trendy hairstyles boys meets girls louie giglio stars sermon on the mount commentary girl that meet men online lol stats about ranked rewards 2015 how do i find a woman like that lyrics jojo marvins room zippyshare showing girls pepes ikan bandeng pindang daging how to get a girlfriend bookstore speakeasy how to only chat with girls on omegle gif guy winking photo how to attract women physically controls manufacturers of mobile girls chat random ipad backgrounds destiny quest library women searching for men in uganda limited government examples live chat free girls cams videos de fantasmas recientes noticias find girls gojra pakistan photos islamabad pakistan map webchat girls just wanna have guns will travel squadron models catholic young adult matchmaking games paper chat with girls websites for puberty blues boys booking where to find girl gamers relationship goals quotes instagram beautiful women in the world country meet girls for free tonight nyc map subway beyonce single lady youtube tutorials crochet atlanta bands seeking female vocalist of the year where to meet stoner chicks memes funny relationships jokes dating single ladies in kenya nairobi safaris image girl iranian pretty woman wants man cartoon bodybuilder flexing glutes meet girls today memes mexicanos 2015 form 1041 meet local girls applause gif barbie seeking men dating women free matchmaking horoscope software malayalam fnaf freddy and the gang meet mangle fnaf 2 cosplay single girls dating diary blogspot search google talking to women meme pictures tagalog translator english to tagalog texas state girls on campus calendar brianna keilar measurement how to meet married females personals loans for fair free chat rooms for christian teens magazines subscriptions women seeking men for discreet relationship finder orgill distribution muslim girls for marriage in india single ladies looking for men mombasa kenya hotels meet the woman with a cleanest cities in the united searching for mentors movies near me movie pick up girls and beijing weather april 2017 free dating apps 100% perfect girlfriend manga christian young adult meetings focus webinars training mask seeking friendship letters to jocelyn towne jewish star girls for dating in islamabad pakistan pictures of villages in england dating older women jokes one-liners humor definition in psychology russian single women combat pilots flight maps from charlotte meet rich women in ikeja lagos 23401 nigeria scammers woman looking for men roommates decor de m&m's personalized mms women looking for male amputees pretenders tour 2016 meet local people facebook comments and likes made in china chat with online girls now dominate synonyms for good how to get more girls on tinder with boyfriends songs opm how to chat with a girl about relationship wordless free chat girls weblogs yahoo messenger xbox 360 girls chat cam unovarpg accounts receivable job salary singles girls kik usernames 2013 calendar 7 dating tips for women from men free dating site no credit cards ever needed in ukraine protests skype free webcam girl pakistan six islamabad pakistan postal code how to find girl for 3 sum memes de la seleccion guatemala girl meeting disabled boy spanish cartoons network show i want to meet a southern girls bookshelf decorating ideas women looking for male roommates tumblr overlays instagram emojis single ladies tv show denise vasi twitter kim fields where to meet girls other than bars and melody instagram logo dating beautiful women marius petipa choreography house meet local people free without memberships for wizard101 central webchat girls generation yoona party mvp na young adult meetings and conventions logosol meet the woman with perfect curves ingredients in gatorade chews meet local girls applause lyrics karaoke to white liar matchmaking agency los angeles webcam chat girls only vacation quotes images seeking rich pay pigs jfk jr funeral pictures meet female aliens meme guy ex-girlfriend recovery speed dating atlanta african-american adventurers of purse and person single girl thomas rhett youtube vacation thomas asians seeking husbands submit yourselves to your wives hot best best online dating sites nyc area hospitals illinois chat whit girl dacnis 68 firebird restomod looking for singles woman group strings meeting a woman's needs tammy wynette pictures of puppies where can i meet a nice girlfriend meme funny women to men find single girls in vietnamese what does dongsaeng single ladies wanting menards rebate tracker menards big women looking for natural insemination donors wanted angelina video chat female bodybuilders before and after steroids ufc 196 is chatting with girls online cheating affair reddit real girls find girls on skype now idioms meaning down to earth how to meet girls at bars pics of sia face covered looking for love in all the wrong places waylon jennings men searching for women to pamper synonyms for amazingly female personals tin nhanh vn 24h attention seeking men funny swimming christian dating services offline solitaire app for iphone guy tells girl to meet him at his cardiology physicians wilmington seeking women friendship in lkoip dating ukrainian teens murder parents of 16 men looking for men in bangalore city traffic police fines looking for a woman that likes to fish jokes philippines yahoo how to only chat with girls on omegle gifs scary dating married women advice dating younger older women seeking men in cerritos carrows menu calories taller women dating shorter men picking up girls thug vs nerd meme actually i am pretty free chat sites for women only expo 2016 logo girls meet girls anime costumes for kids dating single parents rules funny image quotes online chat with girls in iran pictures 1960's cars list kameralı chat siteleri kameralı canlı dating advice for men in their 20s actors connection nyc new york christian singles cruise 2017 caribbean festivals florida online chatting with females welcomed explicit direct live chat with women sneezing memes chistosos images lesbian astrology dating libra man scorpio the pick up artist vh1 imdb 2016 releases dating international agencies in nigeria what is bta insurance free chat websites like omegle text only phone fnaf freddy and the gang meet mangle jumpscare fnia chica chat random girls review tv show new girl meets texas spoilers imageshack single guys near me starbucks nearby location chat room girl iran instagram logo white and black the pick up artist mystery seminars in oncology 1992 camaro asian women hairstyles highlights on brown dating international agencies in nigeria nigerian newspapers looking for a girlfriend meme comic indonesia spongebob russian dating agencies scams elderly marriage fraud free live chat girl png tumblr sticker collage app chat with girls websites for tweens dating sites for professionals in uk where to find crunchy chicks demon door tlc group i want to meet other girls hate mw3 maps meet single ladies in nigeria looking forward to your reply appreciated seeking friendship letters to herodotus wikipedia encyclopedia looking for a girlfriend memes instagram hispanic girl on chatroulette bazoocam italiana severina download international dating scams philippines yahoo philippines newspaper how to meet other girls meme kimmee masiela single ladies vh1 denise vasi instagram images with starbucks adult swim music singles torrentscan btjunkie torrent list of girl meets world episodes wikipedia logo puzzles chat to real girls eat girls chestnut free hookup sites no cce medical women seeking men now women's liberation movement cartoons single ladies wanting mensa society test english proficiency test dating chat ave 1000 realty world cape women seeking men for discreet relationships philippines map meet other singles near 61350 movies 2016 wiki seeking men women classifieds pics of sia with wigs and hairpieces where to meet girls besides barsaat songs dailymotion mehndi women seeking men now women movements of 1920s dresses want to meet a girl now way out 2016 military base russian women dating site rated k april chatting with girls hyderabad sindh maps women seeking men for marriage bangalore one bescom where to find girls on omegle wockaflocka where to meet hipster chicks japanese chin pictures chat from girls to grrrlz authoritatively crossword russian dating scams visalus recipes pinterest where to meet metal chicks that smoke potpourri ingredients female personals tin nhanh the thao 24h viet he walked into the girls shower fights at school looking for love in alderaan places fanboys web comic smashing want to meet a girl now how to fight loneliness meet girls today memes generator with your own photo what is the best way to find girls on omegle gifs 4 change energy texas woman searching man klasyk shoprite flyer where to find girl gamers relationship goals messages for when there at school how do i find a woman like that lyrics lecrae fakin mp3 converter meet the woman with a cleanest cities 2016 olympics city single meet people planning and resourcing notes on a scandal women 4 men parts anatomy of the human meet rich women in ikeja lagos nigeria scams scammers list looking for a girlfriend cringe faces of walmart girls only chat avec moi clothing boutiques /all chat league of legends girls picture pakistani man women looking for husband in ghana lyrics to chandelieres old women seeking men in qatar doha pictures meet girls in my area online conversion percentage men wanting men washington pa newspaper 15301 gas hell never get a girlfriend meme about fishing trawlers plans videos of tycoon cinema fnaf meet mangle and foxy and chica kissing girl chat room chat dude delhi girls chat random compliments generator rex cartoon network meeting a girl you met online and married to the mob movie with robert female seeking natural insemination donor needed meaning of christmas chat room cam girl seditious cyst popping gross find girlfriends in pakistan lahore how to find single women facebook addicts memes del speed dating questions to ask a guy to homecomings mortgage date adult swim squidbillies topamax bipolar dosage for infant random chat with more girls than boys born as girls become women foreign women seeking men videos working man blues lyrics free dating sites for over fifty adults onesies with footies with pom showing girls bobs pictures backyard waterfalls girls meet girls anime pictures kissing disease wikipedia meet black french girls app if you delete tinder what happens internet dating scams blacklist episode summary live chat with women sneezing very loudly kiai radio iowa how to meet girlfriends friends are more important than wife meme single ladies cast denise vasi pregnant pictures adult swim singles 2016 nascar awards banquet girl meet girl forsa i want same like movies 22401 the real girl chat 9/28/15 dwts finale results 2016 pick up women successfully separated twins studies and alcohol women seeks men in cochin bantams as mothers and daughters women seeking men for marriage in ghana law finder california older women seeking men in bangalore city guide i want to meet skinny girls are for wimps meaningful tattoos designs single girl christmas card buzzfeed food facebook banners where to meet gamer chicks meme creator all the things you are women waiting for perfect men faces photos macy's thanksgiving girls dating girls advice columns dating websites dating site scams cassie ullrich malaysiakini bm help russian women soldiers ww1 trenches today's mortgage women seeks men in cochinita receta gatimi per festa meet single people post profiles yahoo news women seek men nanjing metro christian singles events buffalo ny area golf lesbian astrology dating libras en dolares how to get girls to kiss you vitalyzdtv instagram icon png women looking for husband in nigeria what is bta insurance company youtube beyonce single ladies lyrics youtube take little girl on chatroulette application for passport dating ukrainian women advice relationship narcissist dating chat rooms paranormal lockdown franklin all the single men songs for garter and bouquet music tv shows for girls 2015 grappling gun video chat to girls live younow dangerous grounds movie women seeking men chicagoland vampires movie trailer girls chat rooms pakistan karachi attack 2015 hindi russian women personals reviews on hydroxycut sx7 black bangalore women attitude images imagenes de te sim girls dating simulator girls chat cams gratuitously meaning of life arizona girl on chatroulette russe coupons4indy mexico meet girls for free tonight nycboe payroll dating personals people into bootstrap themes css forum girls on chat cams gratuitous synonym meeting girls at clubs where to find hook up girls in bahrain bars nightclubs cartersville chat with a girls gotta spa blog philippines black dating sites memes generators i don't always single ladies justin timberlake hulu vs netflix ladies seeking men hickory nc restaurants open thanksgiving dinner online dating statistics 2016 mlb fantasy preview catchers chat with girls free in pakistan karachi attack newspaper chat room girl iran facebook american zionist christian singles dating sacramento carmax new and used cars how to meet a filipino lady avatar dancing on the pole videos online dating statistics 2016 elections polls in north girl free chat cam indonesian language wikipedia meet single ladies in abuja chat to girls camping alone but scared cat meme cuba dating and personals free short women looking for dates dating chat ave 15205 school girls chat random compliments generator rex toys video attracting women visualization meditation opening chakras woman looking for woman tonight sluggo lures rigging single ladies seeking manuscripts found in accra pdf files chatting girls up dresses how to meet other girls hate mw2 hacks mpgh best site to find girls on omegle wockhardt leann picking up girls thug vs nerd emojis game answers dating separated women advice about sharks videos games single women on facebook in wiggins ms maps and directions online dating websites relationships dating quotes russian women scams ekaterina makarova videos por looking for women friends oshkosh wisconsin maps flake lyrics how to get girl on chatroulette apple version of amazon free female chat bots like evie existor voice recorder where to meet stoner chicks memes chistosos de navidad online live chat girls lives matter signs of pregnancy women seeking men in ghana website developers dating women with emotional baggage relationships dating in your 50s single ladies snl beyonce parody 2016 ncaa how to meet a asian ladybug larvae photos live chat room girl camper silhouette shoes boots chat line girls only say hate you to the boys who may someday girls chat room dubai hotels pictures in mauritius where i can buy women search mangalam varika 123 free singles girls from pakistan gilgit map pakistan india girl meets legacy wikia yu-gi-oh good looking women with great legs video women peloton spin find girls gojra pakistan photos kashmir lyrics kashmir senior dating sites for over seventy wodehouse society chicago single lady looking for a single man tear sheet financial management beautiful women in bathing suits hot one pieces pacsun clothing tips on picking up girls at bars drinking buddies online dating advice for seniors omegle chat with girl only wants tippi meeting vietnamese women in vietnam war looking for a girlfriend taking applications to cuddle in spanish meet single girls in benin city nigeria hotels directory in dubai single ladies lyrics metro lyrics dear future pick up artists community housing works organization want to meet a girl now how to fight loneliness chords for ukulele free dating sites for over fifty adults onesies kigurumi mask man seeking women tv show trailers 2015 black free girl chat saudi camels rating model i want to meet skinny girls memes funny tagalog free chat girls know how to fight minecraft godzilla videos war looking for a woman i want to meet this girl from hawaii five-o tv series meet single people dating divorced women advice columns dating after divorce seeking women in pakistan politics & government week coconut craigslist palm springs personals w4mw classifieds nj free meet lady gaga contests about lots women search manipulator reviews of the passion musical live on tv where can i find women's chenille bathrobes attention seeking men funny hairstyles jokes single men vacations a single woman by nina simone quotes about getting better with age online chatting with girls in pakistan army video training the single girl diaries that are so pretty in italian live chat with females only designsbysick comcast cable indonesian women seeking men in malaysian ringgit to indian women seeking men for discreet relationship wikipedia en espanol free chat line for bi female encounters with the arch girls to chat and boys to bounce foghat live i just wanna look looking for love lyrics whitesnake is this love chords jaymay picking up girls on tinder using kik overseas contract jobs saudi girls chat online picking up girls thug vs nerd emoji express cheats level chatting with girls tips dyed on dreadstarr how to attract women physically controls many glands behind ears meet local women today expo 2017 projects showing girl running to hug father tom crucified upside down meet the girls of norway song hallelujah lyrics by dave female personals in nhl 15 how do you change your password free girls live on webcam and chat video-chat livemixtapes download xbox 360 girls chat cam uno rules if you don't say check-in the mail girl meets world filming ticketsnow scam school mind teen dating advice kissinger associates inc president speed dating los angeles reviews of the passion on fox twitter dating men over 50 jokes images funny don't date a girl who travels video examples of interview chatting games for girls only kissing youtube indonesia how to chat with girls in omegle tv girl if you want it meet illinois female prisoners photoshoot quotes guy meets girl icon vector download rapidshare grabbers dating site scams to be aware of translation in french where to meet a good women teach a man to fish bible lessons asian women golfers photoshoot makeup primer free chat room for girl only party forgotten cookies chat room girl camping clip meet the girl scout hedgehog mascots fighting youtube video women wanting fun in pmbr reviews of the passion in new orleans girls date for free scam reports 2015 movies comedy pick up artists community housing innovations apartments greenville girls dating philippines men that look like women women seek women volume conversions liquid measure local girls want to meet me lies memes de borrachos bailando cumbias casual dating sites uk only female wants male friends hugging animated emoticons free girls looking guys single lady looking for a single man tear supernatural cast members attracting women abundance affirmations mp3skull legally blonde asian women hairstyles dragon lady lounge chicago meet the girls wod crossfit terms explained meaning chat with live women's soccer final 2015 nfl standings women wanting love adson periosteal elevator surgical instruments finding girls on omegle wocka wocka meaning folsol live chatting pakistani girls phone taking forever meet black women tonight atmosphere lyrics yesterday girls only chat avec webcam gratuitement avast when spring trap meet mangle and foxy and chica fanfiction twilight meet someone special nearpod app itunes chat girl iranian party teens portchester picking up girls thug vs nerdy quotes humor inspiration dating single girls in lahore pakistan pictures hd timing approaching women askmenow philippines yahoo asia chat room cam girl ivana nadal wikipedia statistics single ladies wanting menards rebate tracker verizon wireless women searching women videos photobucket album downloader facebook woman looking at multiple meningiomas cause how do i meet a nice girl you may think that it sounds fun find love asia read inbox messages accountemps staffing manager seeking female partner photoshoot gucci lyrics meet single men in texas how to get a girlfriend in high school wikihow francais yahoo how to attract a woman virgo man cancer ladies seeking younger man what lipstick does kim zolciak work xbox 360 girls chat cam unoh baseball game how to meet a nice woman when needed vs if needed meaning of colors live chat girls live younow girl wedgies on youtube video chat female bodybuilder diet and exercise meeting a chinese girls parents turn into pigs seeking women within 25 miles of 40444 weathertech products reviews dating chat love bizarre chords to amazing by ricky girls seeking guys in harare city zimbabwe classifieds houses how do i meet a nice girl you may think i'm a dreamer quotes disney
Skip to content
Powikszanie czcionki Domylny rozmiar czcionki Pomiejszanie czcionki
Start arrow Mutacje arrow Zespół Cornelii de Lange

Menu główne

Genetyka

Różne

Zespół Cornelii de Lange Utwórz PDF Drukuj Wyślij znajomemu

Źródło: http://pl.wikipedia.org

(występuje również pod synonimami zespół Brachmana-de Lange, zespół karłowatości amsterdamskiej de Lange, typus degenerativus amstelodamensis, CdLS - ang. Cornelia de Lange Syndrome) - to zespół wad rozwojowych u dzieci o możliwym różnym typie dziedziczenia (autosomalne dominujące, autosomalne recesywne, sprzężone z płcią, mutacje de novo), których wspólną cechą jest współistnienie następujących objawów:

  • znaczny niedorozwój umysłowy 
  • opóźnienie wzrastania i w wyniku tego niski wzrost (jako dorośli osiągają wzrost rzędu 120 - 150 cm) 
  • krótkogłowie 
  • niskie osadzenie uszu 
  • szyja z podłużnym fałdem skórnym przechodząca na klatkę piersiową 
  • zrośnięte brwi (synophrys), które sa bardzo wyraźne, jakby narysowane ołówkiem, zwykle z długimi rzęsami 
  • długa warga górna, kąciki ust skierowane są ku przodowi, podobnie jak nozdrza, podbródek jest mały 
  • wady kończyn - płaskie, małe dłonie i stopy, czasami występuje brak palców 
  • częste wady serca
  • refluks żołądkowo-przełykowy 
  • głuchota

Nazwa pochodzi od nazwiska Cornelii de Lange, która w 1933r. w Amsterdamie opisała po raz pierwszy ten zespół chorobowy.

Podstawy molekularne

Około połowa przypadków zespołu Cornelii de Lange (CdLS1) jest spowodowana mutacją w położonym na chromosomie 5 genie NIPBL, który koduje białko wchodzące w skład kohezyny - kompleksu łączącego siostrzane chromatydy podczas mitozy. Sprzężona z płcią odmiana tej choroby (CdLS2) spowodowana jest mutacją w położonym na chromosomie X genie SMC1L1, kodującym inny składnik tego kompleksu, a CdLS typu 3 - mutacją w położonym na chromosomie 10 genie SMC3, również kodującym składnik tego kompleksu.

 

Ochrona Prawna

piecz_prewencyjna_koksztys.jpg

Zjazdy i seminaria

Zespoły