Ce este sindromul Kleefstra?

Kleefstra syndrome is a disorder that involves many parts of the body. Sindromul Kleefstra este
o tulburare care implic mai multe pri ale corpului. Characteristic features of Kleefstra
syndrome include developmental delay and intellectual disability, severely limited or absent
speech, and weak muscle tone (hypotonia). Caracteristici ale sindromului Kleefstra includ
intarziere de dezvoltare i dizabiliti intelectuale, sever vorbire limitat sau absent, iar tonusul
muscular slab (hipotonie). Affected individuals also have an unusually small head size
(microcephaly) and a wide, short skull (brachycephaly). Persoanele afectate, de asemenea, o
dimensiune neobisnuit de mici cap (microcefalie) i o gam larg, craniu scurt (Brahicefalie).
Distinctive facial features include eyebrows that grow together in the middle (synophrys), widely
spaced eyes (hypertelorism), a sunken appearance of the middle of the face (midface
hypoplasia), nostrils that open to the front rather than downward (anteverted nares), a protruding
jaw (prognathism), rolled out (everted) lips, and a large tongue (macroglossia). Caracteristici
distinctive faciale includ sprncene care cresc mpreun n centru (synophrys), ochii larg
distanate (hipertelorism), un aspect scufundat de la mijlocul feei (midface hipoplazia), narile
care se deschid n fa, mai degrab dect (nares anteverted) n jos, o falc proeminent
(prognatism), lansat buze (rsfrnt), i o limb de mare (macroglosia). Affected individuals may
have a high birth weight and childhood obesity. Persoanele afectate pot avea o greutate mare la
natere i obezitatea infantila.
People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart
defects, genitourinary abnormalities, seizures, and a tendency to develop severe respiratory
infections. Persoanele cu sindrom Kleefstra pot avea, de asemenea, anomalii structurale
cerebrale, defecte cardiace congenitale, anomalii genito-urinare, convulsii, i o tendin de a
dezvolta infecii respiratorii severe. During childhood they may exhibit features of autism or
related developmental disorders affecting communication and social interaction. In timpul
copilariei ei pot prezenta caracteristici de autism sau tulburari de dezvoltare asociate care
afecteaz comunicare i interaciune social. In adolescence, they may develop a general loss of
interest and enthusiasm (apathy) or unresponsiveness (catatonia). n adolescen, ei pot dezvolta
o pierdere general de interes i entuziasm (apatie) sau lips de reacie (catatonie).
How common is Kleefstra syndrome? Cat de comuna este sindromul Kleefstra?
The prevalence of Kleefstra syndrome is unknown. Prevalena sindromului Kleefstra este
necunoscut. Only recently has testing become available to distinguish it from other disorders
with similar features. Doar recent au devenit disponibile pentru ao distinge de alte tulburri cu
caracteristici similare.
What are the genetic changes related to Kleefstra syndrome? Care sunt schimbrile genetice n
legtur cu sindromul Kleefstra?
Kleefstra syndrome is caused by the loss of the EHMT1 gene or by mutations that disable its
function. Sindromul Kleefstra este cauzat de pierderea genei EHMT1 sau prin mutaii care
dezactiveaz funcia sa. The EHMT1 gene provides instructions for making an enzyme called
euchromatic histone methyltransferase 1. Histone methyltransferases are enzymes that modify
proteins called histones. Gena EHMT1 ofer instruciuni pentru fabricarea unei enzime numite
histone euchromatic metiltransferaza 1. methyltransferases Histone sunt enzime care modific
proteine numite histones. Histones are structural proteins that attach (bind) to DNA and give
chromosomes their shape. Histones sunt proteine structurale care se ataeaz (leag) de ADN si
da cromozomi forma lor. By adding a molecule called a methyl group to histones, histone
methyltransferases can turn off (suppress) the activity of certain genes, which is essential for
normal development and function. Prin adugarea o molecula numita o grupare metil la histone,
methyltransferases histone poate opri (suprima) activitatea anumitor gene, care este esenial
pentru dezvoltarea i funcionarea normal.
Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building
blocks (base pairs) on one copy of chromosome 9 in each cell. Cele mai multe persoane cu
sindrom Kleefstra lipsesc o secven de aproximativ 1 milion de blocuri de ADN (perechi de

baze) pe o copie a cromozomului 9 n fiecare celul. The deletion occurs near the end of the long
(q) arm of the chromosome at a location designated q34.3, a region containing the EHMT1 gene.
tergerea apare aproape de sfritul lungi (q) braul cromozomului la o locaie desemnat q34.3,
o regiune care conine gena EHMT1. Some affected individuals have shorter or longer deletions
in the same region. Unele persoane afectate au deleii mai scurte sau mai lungi din aceeai
regiune.
The loss of the EHMT1 gene from one copy of chromosome 9 in each cell is believed to be
responsible for the characteristic features of Kleefstra syndrome in people with the 9q34.3
deletion. Pierderea a genei EHMT1 de la un exemplar din cromozomul 9 n fiecare celul este
considerat a fi responsabil pentru trsturile caracteristice ale sindromului Kleefstra la persoanele
cu tergerea 9q34.3. However, the loss of other genes in the same region may lead to additional
health problems in some affected individuals. Cu toate acestea, pierderea de alte gene din aceeai
regiune poate duce la probleme de sntate suplimentare, n unele persoane afectate.
About 25 percent of individuals with Kleefstra syndrome do not have a deletion of genetic
material from chromosome 9; Aproximativ 25 la suta din persoanele cu sindrom Kleefstra nu au
o eliminare de material genetic de la cromozomul 9; instead, these individuals have mutations in
the EHMT1 gene. n schimb, aceste persoane au mutatii ale genei EHMT1. Some of these
mutations change single protein building blocks (amino acids) in euchromatic histone
methyltransferase 1. Others create a premature stop signal in the instructions for making the
enzyme or alter the way the gene's instructions are pieced together to produce the enzyme. Unele
dintre aceste mutatii schimba blocuri individuale ale cldirilor de proteine (aminoacizi), n
euchromatic metiltransferaza histone 1. Actori crea un semnal de oprire prematur n
instruciunile pentru a face enzima sau modifica modul instruciunile gena sunt pus cap la cap
pentru a produce enzima. These changes generally result in an enzyme that is unstable and
decays rapidly, or that is disabled and cannot function properly. Aceste modificri duce, n
general, ntr-o enzima care este instabil i se descompune rapid, sau c este dezactivat i nu
poate funciona corect.
Either a deletion or a mutation affecting the EHMT1 gene results in a lack of functional
euchromatic histone methyltransferase 1 enzyme. Fie o deleie sau o mutaie care afecteaz
rezultatele gena EHMT1 ntr-o lips de funcional euchromatic metiltransferaza histone 1
enzim. A lack of this enzyme impairs proper control of the activity of certain genes in many of
the body's organs and tissues, resulting in the abnormalities of development and function
characteristic of Kleefstra syndrome. Lipsa acestei enzime afecteaza un control adecvat al
activitii anumitor gene n multe dintre organele corpului i esuturi, care rezult n anomalii de
dezvoltare i funcia caracteristic a sindromului Kleefstra.
Read more about the EHMT1 gene and chromosome 9 . Cititi mai multe despre EHMT1 gena i
cromozomul 9 .
Can Kleefstra syndrome be inherited? Poate fi motenit sindromul Kleefstra?
The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a
deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene
is sufficient to cause the condition. Motenirea sindromului Kleefstra este considerat a fi
autosomal dominant deoarece o deleie ntr-un exemplar de cromozomul 9 n fiecare celul sau o
mutaie ntr-o copie a genei EHMT1 este suficient pentru a provoca starea. Most cases of
Kleefstra syndrome are not inherited, however. Cele mai multe cazuri de sindrom Kleefstra nu
sunt mostenite, cu toate acestea. The genetic change occurs most often as a random event during
the formation of reproductive cells (eggs or sperm) or in early fetal development. Schimbarea
genetic se produce cel mai adesea ca un eveniment aleator n timpul formrii de celule de
reproducere (oua sau spermei) sau n dezvoltarea fetal precoce. Affected people typically have
no history of the disorder in their family, though they can pass the disorder on to their children.
Persoanele afectate au de obicei nici o istorie de tulburare n familia lor, dei ele pot trece
tulburare pe copiii lor. Only a few people with Kleefstra syndrome have been known to
reproduce. Doar cteva persoane cu sindrom Kleefstra au fost cunoscute de a reproduce.

Rarely, affected individuals inherit a chromosome 9 with a deleted segment from an unaffected
parent. Rar, persoanele afectate moteni o cromozomul 9, cu un segment ters dintr-o mam
neafectat. In these cases, the parent carries a chromosomal rearrangement called a balanced
translocation, in which no genetic material is gained or lost. n aceste cazuri, printele poart o
rearanjare cromozomiale numit o translocaie echilibrat, n care nici un material genetic este
ctigat sau pierdut. Balanced translocations usually do not cause any health problems;
Translocations echilibrate, de obicei, nu cauzeaz probleme de sntate; however, they can
become unbalanced as they are passed to the next generation. cu toate acestea, ele pot deveni
dezechilibrat n care acestea sunt trecut la urmtoarea generaie. Children who inherit an
unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic
material. Copiii care mostenesc o translocaie neechilibrat poate avea o rearanjare
cromozomiale cu material genetic suplimentar sau lips. Individuals with Kleefstra syndrome
who inherit an unbalanced translocation are missing genetic material from the long arm of
chromosome 9. Persoanele cu sindrom Kleefstra care mostenesc o translocaie neechilibrat
lipsesc material genetic de la braul lung al cromozomului 9.
A few individuals with Kleefstra syndrome have inherited the chromosome 9q34.3 deletion from
an unaffected parent who is mosaic for the deletion. Cteva persoane cu sindrom Kleefstra au
motenit cromozom 9q34.3 tergerea de la un printe afectat care este mozaic pentru tergerea.
Mosaic means that an individual has the deletion in some cells (including some sperm or egg
cells), but not in others. Mozaic nseamn c o persoan are eliminarea n unele celule (inclusiv
unele celule spermatice sau ou), dar nu i n altele.
Where can I find information about diagnosis or management of Kleefstra syndrome? Unde pot
gsi informaii despre diagnosticul sau managementul sindromului Kleefstra?
These resources address the diagnosis or management of Kleefstra syndrome and may include
treatment providers. Aceste resurse adresa diagnosticul sau managementul sindromului Kleefstra
i poate include furnizorii de tratament.
Gene Review: Kleefstra Syndrome Gene opinie: Sindromul Kleefstra
Genetic Testing Registry: Chromosome 9q deletion syndrome Testarea genetica Registrul:
sindromul cromozomului 9q tergere
You might also find information on the diagnosis or management of Kleefstra syndrome in
Educational resources and Patient support . S-ar putea gsi, de asemenea, informaii cu privire la
diagnosticul sau managementul sindromului Kleefstra n resurse educaionale i de sprijin
pacientului .
General information about the diagnosis and management of genetic conditions is available in
the Handbook. Informaii generale despre diagnosticul i managementul de boli genetice este
disponibil n Manualul. Read more about genetic testing , particularly the difference between
clinical tests and research tests . Cititi mai multe despre testarea genetica , mai ales diferenta
dintre testele clinice i teste de cercetare .
To locate a healthcare provider, see How can I find a genetics professional in my area? in the
Handbook. Pentru a localiza un furnizor de asistenta medicala, vezi Cum pot gsi un profesionist
n domeniu mea genetic? din Manualul.
Where can I find additional information about Kleefstra syndrome? Unde pot gsi informaii
suplimentare despre sindromul Kleefstra?
You may find the following resources about Kleefstra syndrome helpful. Putei gsi urmtoarele
resurse despre sindromul Kleefstra de ajutor. These materials are written for the general public.
Aceste materiale sunt scrise pentru publicul larg.
MedlinePlus MedlinePlus - Health information - Informaii referitoare la sntate
Additional NIH Resources - National Institutes of Health Resurse suplimentare NIH - National
Institutes of Health
National Human Genome Research Institute: Chromosome Abnormalities National genomului
uman Institutul de Cercetare: anomalii cromozomiale

Educational resources - Information pages (3 links) Resurse educaionale - Pagini informative (3

legturi)
Patient support - For patients and families (5 links) Sprijin pacientului - Pentru pacienii i
familiile (5 legturi)
You may also be interested in these resources, which are designed for healthcare professionals
and researchers. Ai putea fi, de asemenea, interesat n aceste resurse, care sunt concepute pentru
profesionistii din domeniul sanitar i cercettori.
Gene Reviews Review-uri Gene - Clinical summary - Rezumat clinic
Genetic Testing Registry - Repository of genetic test information (1 link) Testarea genetica
Registrul - Repository de informaii test genetic (1 link)
PubMed PubMed - Recent literature - Literatura recente
OMIM OMIM - Genetic disorder catalog - Catalog genetice tulburare
What other names do people use for Kleefstra syndrome? Ce alte nume de oamenii folosesc
pentru sindromul Kleefstra?
9q34.3 deletion syndrome Sindromul tergere 9q34.3
9q34.3 microdeletion syndrome Sindromul 9q34.3 microdeletion
9q subtelomeric deletion syndrome 9q sindromul tergere subtelomerice
9q- syndrome Sindromul 9qchromosome 9q deletion syndrome cromozom sindromul 9q tergere
For more information about naming genetic conditions, see the Genetics Home Reference
Condition Naming Guidelines and How are genetic conditions and genes named? in the
Handbook. Pentru mai multe informaii despre condiiile de numire genetice, a se vedea Genetic
Acas referin situaiei Naming orientri i cum sunt boli genetice si gene numite? n Manualul.
What if I still have specific questions about Kleefstra syndrome? Ce se ntmpl dac mai avei
ntrebri specifice despre sindromul Kleefstra?
Ask the Genetic and Rare Diseases Information Center ntrebai genetice i de boli rare Centrul
de Informare . .
Where can I find general information about genetic conditions? Unde pot gsi informaii
generale despre condiiile genetice?
The Handbook provides basic information about genetics in clear language. Manualul ofer
informaii de baz despre genetica in limbaj clar.
What does it mean if a disorder seems to run in my family? Ce nseamn dac un tulburare pare
s ruleze n familia mea?
What is a chromosome? Ce este un cromozom?
Can changes in the number of chromosomes affect health and development? Poate modificri ale
numrului de cromozomi afecta sntatea i dezvoltarea?
Are chromosomal disorders inherited? Sunt motenit boli cromozomiale?
These links provide additional genetics resources that may be useful. Aceste legturi furnizeaz
resurse suplimentare genetica care pot fi utile.
Genetics and Health Genetic i Sntate
Resources for Patients and Families Resurse pentru pacienti si familiile
Resources for Health Professionals Resurse pentru Health Professionals
What glossary definitions help with understanding Kleefstra syndrome? Ce definiii glosar de
ajutor pentru nelegerea sindromul Kleefstra?
acids ; autism ; autosomal ; autosomal dominant ; brachycephaly ; cell ; chromosome ;
congenital ; deletion ; developmental acizi ; autism ; autozomale ; autozomal dominant ,
Brahicefalie , celul , cromozomiale , congenitale , tergere ; dezvoltare delay ; disability ;
DNA ; egg ; enzyme ; gene ; histone ; hypertelorism ; hypoplasia ; hypotonia ; inherit ;
inheritance ; inherited ; macroglossia ; methyl ; methyltransferase ; microcephaly ; microdeletion
syndrome ; molecule ; mosaic ; muscle tone ; mutation ; prevalence ; prognathism ; protein ;
rearrangement ; reproductive cells ; respiratory ; sperm ; syndrome ; translocation sindromul ,

molecul , mozaic , tonusul muscular , mutaie , prevalena , prognatism , protein , rearanjare ,

celule reproductive , respiratorii , sperm , sindrom ; translocaie
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary . Putei gsi definiii pentru aceste i multe alte termeni din Genetic Acas referin
Glosar .
See also Understanding Medical Terminology . A se vedea, de asemenea, nelegerea
terminologie medical .
References (8 links) Referine (8 legturi)
The resources on this site should not be used as a substitute for professional medical care or
advice. Resursele de pe acest site nu ar trebui s fie folosit ca un substitut pentru ngrijire
medical profesional sau consiliere. Users seeking information about a personal genetic disease,
syndrome, or condition should consult with a qualified healthcare professional. Utilizatorii care
doresc informaii despre o boal genetic personal, sindrom, sau condiie ar trebui s consulte cu
un profesionist din domeniul sanitar calificat. See How can I find a genetics professional in my
area? in the Handbook. Vezi Cum pot gsi un profesionist n domeniu mea genetic? din
Manualul.