Cytogenetic analysis of children with suspected genetic disorder

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منابع مشابه

Cytogenetic analysis of children with suspected genetic disorder.

OBJECTIVES To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder. MATERIALS AND METHODS Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformati...

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Cytogenetic and Molecular Genetic Characterization of Children with Short Stature

BACKGROUND The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations i...

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“Gestalt diagnosis” for children with suspected genetic syndromes

Gestalt identification is the process by which healthcare practitioners actively organize clinical perceptions into specific diagnostic ideas. This implies that clinicians, in particular geneticists, have the ability to quickly generate diagnostic hypotheses in absence of complete information, simply on the basis of combination of specific facial dysmorphisms or particular elements of the clini...

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Attention-deficit/hyperactivity disorder (ADHD) is the most common psychiatric condition with onset in childhood, and in more than 50% of cases it persists into adulthood as a chronic disorder. Over five million methylphenidate (MPH) prescriptions were issued in the USA in 2003, mostly for children. A previous report [R.A. El-Zein, S.Z. Abdel-Rahman, M.J. Hay, M.S. Lopez, M.L. Bondy, D.L. Morri...

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ژورنال

عنوان ژورنال: Kathmandu University Medical Journal

سال: 1970

ISSN: 1812-2078,1812-2027

DOI: 10.3126/kumj.v7i1.1763