Question of the Week

Question :
Posted On : 10 Nov 2008
What is the corelation between the turner syndrome and noonan syndrome?
5
Expert Answer :
No expert answer available.
Answer Discussion :
D
dr umsh patel
Profile
Clinical feature same. turner 45XO where noonan 46XY
16 years ago
M
Mohsin Ali
Profile
Turner syndrome or Ullrich-Turner syndrome encompasses several conditions, of which monosomy X is most common. It is a chromosomal disorder affecting females in which all or part of one of the X chromosomes is absent. Occurring in 1 out of every 2500 girls, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck. Girls with TS typically experience gonadal dysfunction with subsequent amenorrhea and infertility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism, ophthalmological problems, and otological concerns {1}. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematic, and memory areas
Noonan Syndrome {NS} is a relatively common congenital genetic condition which affects both males and females. It used to be referred to as the male version of Turner`s syndrome{1}, however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. The syndrome is named after Dr Jacqueline Noonan.

It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.

16 years ago
D
Dr.Ajay Menon
Profile
similar phenotype
16 years ago
A
Ankita Sen
Profile
both are x join ed diseases
16 years ago
D
drprashant shankhapal
Profile
pulmonary stenosis
16 years ago




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