46,XY,21qi-46,XY,21p- mosaicism in a child with Down's syndrome.

Chromosome Mosaicism in an Indian Child with Down's Syndrome.

Since the first report by Lejeune, Gautier, and Turpin in 1959 of the findings of trisomy 2I and a chromosome number of 47 in Down's syndrome (mongolism), several different chromosomal patterns have been described in patients with this disorder. One of these is chromosome mosaicism. In such cases, the patient may lack some of the features characteristic of the syndrome-and indeed some subjects ...

Chromosome mosaicism in a child with features characteristic of the 'Cat Cry' syndrome.

Anesthetic consideration in downs syndrome--a review.

Downs syndrome constitutes to be the most common chromosomal disorder. Patients with Downs's syndrome are posted for several surgeries including dental procedures and even for facial reconstruction. They are associated with several congenital anomalies in different organ system. There is also increased incidence of atlanto axial instability and risk of spinal cord injury. These children are sus...

a child with h syndrome

introduction h syndrome (omim 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. case presentation a 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cu...

Idiopathic Stevens-Johnson Syndrome in a Child: a Case Report

Background Stevens-Johnson syndrome (SJS) is one of potentially fatal disorders that often occur after taking certain types of medication. There are reports of this disease after some infections. This paper presents the case of a young boy with idiopathic Stevens-Johnson syndrome. Case Report A six-year-old male patient with complaint of fever and skin lesions was transferred to emergency depar...