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Showing 1 results for Chromosomal Analysis

Mohammadian S (md), Bazrafshan Hr (md),
Volume 1, Issue 1 (3-1999)
Abstract

The term Noonan syndrome has been applied to phenotypic male and female who have certain anomalies that occur also in female with Turner’s syndrome. These patients have normal karyotype. The disorder is very rare. The most common abnormality are short stature, webbing of the neck, Pectus Carinatum or Pectus excavatum, congenital heart disease. This particular case is a 8-year-old girl-patient who referred to pediatric clinic with short stature. Another abnormality in these patients is abnormal facies (Hypertelorism, hypogonadism, piqure chest and webbing of the neck). The patient had moderate mental retardation. Chromosomal analysis revealed 46xx cytogenetic distinguished Noonan syndrome.

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مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
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This work is licensed under a Creative Commons — Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)