Bize UlaşınAçılış Sayfası YapSık Kullanılanlara EkleReklamÜye Girişi
20 Nisan 2014 Pazar

Güvenilir Bilgi & Sağlıklı Yaşam


AnaSayfa

ONLİNE ZAYIFLAMA KLİNİĞİ

Yaptığınız diyetlerin etkisi
Günlük kalori harcamanız
Besinlerle ne kadar kalori alıyorsunuz?
Kilonuz ile ilgili hesaplamalar
Zaman içindeki değişiminiz
Nasıl Zayıflayabilirsiniz?


DOKTOR BUL-SORU SOR

Şehrinizdeki Sağlık Merkezleri

 İDEAL KİLONUZ
Erkek   Bayan
Yaş: yıl
Kilo: kg
Boy: cm

Diseases & Conditions:
A •  B •  C •  D •  E •  F •  G •  H •  I •  J •  K •  L •  M •  N •  O •  P •  Q •  R •  S •  T •  U •  V •  W •  X •  Y •  Z

Diseases & ConditionsA •  B •  C •  D •  E •  F •  G •  H •  I •  J •  K •  L •  M •  N •  O •  P •  Q •  R •  S •  T •  U •  V •  W •  X •  Y •  Z  [Toplam 1734 Hastalık]

Diseases & Conditions >> D > Down Syndrome (Trisomy 21; Trisomy G)

Down Syndrome (Trisomy 21; Trisomy G)

Down syndrome (trisomy 21, trisomy G) is a chromosomal disorder resulting in mental retardation and physical abnormalities. Most cases of Down syndrome are caused by an extra copy of chromosome 21. Children with Down syndrome have delayed physical and mental development, specific head and facial features, and short stature. The diagnosis is suggested by the child's physical appearance and is confirmed by finding an extra copy of chromosome 21 in a blood sample. Most children with Down syndrome survive to adulthood.

An extra chromosome, making three of a kind, is called trisomy. The most common trisomy in a newborn is trisomy 21 (three copies of chromosome 21). Trisomy 21 causes about 95% of the cases of Down syndrome. The extra chromosome may come from the father; however, older mothers, especially those older than 35, more commonly contribute the extra chromosome. Yet, because most births occur to younger women, just 20% of infants with Down syndrome are born to mothers older than 35. Women who have Down syndrome have a 50% chance of having a child with Down syndrome. However, many affected fetuses abort spontaneously. Men with Down syndrome are usually infertile.

Down Syndrome: Trisomy 21

Symptoms

In Down syndrome, physical and mental development is delayed. Infants tend to be placid and passive. They rarely cry, and they have somewhat limp muscles. They tend to have a small head and a face that is broad and flat with slanting eyes and a short nose. However, some newborns appear and then develop characteristic facial features during infancy. The tongue is large. There is extra skin around the back of the neck. The ears are small, rounded, and set low in the head. The hands are short and broad, with a single crease across the palm. The fingers are short, and the fifth finger, which often has two instead of three sections, curves inward. A space is visible between the first and second toes. Children with Down syndrome have a short stature.

The intelligence quotient (IQ) among children with Down syndrome varies but averages about 50, compared with normal children, whose average IQ is 100. Children with Down syndrome have better visual motor skills (such as drawing) than skills that require listening. Thus, their language skills typically develop slowly. Behavior suggestive of attention-deficit disorder (sometimes with hyperactivity) is often seen in childhood. Children with Down syndrome are at greater risk of autistic behavior, especially those with severe intellectual disability. Depression is also common among children and adults. Early intervention with educational and other services improves the functioning of young children with Down syndrome.

Children with Down syndrome often have heart defects. They are prone to hearing problems because of recurring ear infections and the associated accumulation of inner ear fluid (serous otitis). They are also prone to vision problems because of problems in their corneas and lenses. The joints in the neck may be unstable, which can lead to weakness or paralysis. Many people with Down syndrome develop thyroid disease. They are also at a higher risk of developing leukemia.

Did You Know...

Only 20% of infants with Down syndrome are born to mothers older than 35.

Diagnosis

Down syndrome may be suspected before birth based on physical defects detected during an ultrasound of the fetus or based on abnormal levels of certain proteins found in the mother's blood in the first 15 to 16 weeks of pregnancy. Screening for Down syndrome before 20 weeks of pregnancy is recommended for all women regardless of age.

An infant with Down syndrome has a physical appearance that suggests the diagnosis. A doctor confirms the diagnosis by testing the infant's blood for trisomy 21 or other disorders of the 21st chromosome. After the diagnosis is made, doctors use tests, such as ultrasound and blood tests, along with examinations by specialists, to detect abnormalities associated with Down syndrome. Treating such abnormalities can often prevent them from impairing health. Thus, these children should have regular screening for thyroid disease, vision problems, and hearing. The bony joints of their neck should be checked for instability by x-rays before they participate in Special Olympics or other sporting events.

Prognosis

The aging process seems to be accelerated, but most children with Down syndrome survive to adulthood. The average age at death is 49; however, many people reach their 50s or 60s. Symptoms of Alzheimer-like dementia, such as memory loss, further lowering of intellect, and personality changes, may develop at an early age. Heart abnormalities are often treatable with drugs or surgery. Heart disease and leukemia account for most deaths among children with Down syndrome.

Recent findings indicate that blacks with Down syndrome have a substantially shorter life span than whites. This finding may be the result of poor access to medical, educational, and other support services.

Last full review/revision December 2008 by Gregory S. Liptak, MD, MPH

Source: The Merck Manual Home Edition


Last Updated: April 19, 2009, 7:06 pm
This article has been read 2998 times

This information kindly provided by Fullhealth.net

Popüler Konular
(Diseases and Conditions)
 

GÜNCEL SAĞLIK HABERLERİ
...
Bal arılarının ürettiği mucize propolis.

...
Et, bal ve sütte sahtecilik yapan markalar LİSTE

...
Yaza Sağlık Katan 10 Meyve

...
20 YAŞ DİŞİ HER YAŞTA ÇIKABİLİR

...
Tümör Tedavisinde Yeni Yöntenler...

...
Ramazan da Sağlıklı Beslenin

...
Beyni Aktif Tutun, Alzehimer Olmayın...

...
Çocukları korkulardan kurtarmanın 5 yolu

...
Diz Kireçlenmesi Tedavisinde Önemli Noktalar !

...
GIDA TAKVİYELERİNDE İLK GMP

...
Beyni Aktif Tutun, Alzehimer`dan Uzak Durun

...
Kaliteli et nasıl anlaşılır...

...
Bulaşıcı Göz Hastalığına Dikkat !

...
Su İçin Ağzınız Kokmasın!

...
Früktozlu mısır şurubu kullanımı

Sitene Ekle

Resim Galerisi


Günün Anketi

Bitkisel ürünlerin, fiyatları ve içerik gibi ürün özellikleri aynı olmak kaydıyla tercihiz hangisi olur? - Katılım : 2257







  



Kullanım Şartları | Reklam | Webmaster: hekimce@yahoo.com
Copyright © 1999 - 2011 www.hekimce.com
[All Rights Reserved - Sitede Yer Alan Bilgi, Belge ve Yazılımların Yazılı veya Görsel Ortamda Tamamen veya Alıntı Yapılarak Kullanımına İzin Verilmemektedir]