نتایج جستجو برای: chromosomal anomalies

تعداد نتایج: 91765  

Journal: :Genetics and molecular research : GMR 2009
A G Tomatir H Demirhan H C Sorkun A Köksal F Ozerdem N Cilengir

We examined the distribution and demographic characteristics of congenital anomalies in a Turkish province for five years. The records of 63,159 live births between 2000 and 2004 were examined retrospectively. Major congenital anomalies were classified according to year, organ system, gender, family relationship, maternal age, mortality rate, and method of delivery. There were 183 cases of majo...

Journal: :Australian and New Zealand Journal of Obstetrics and Gynaecology 2014

2004
Hélène Dollfus Robert Debré

Dysmorphology is the field of medicine focusing on congenital developmental abnormalities due to exogenous teratogens, chromosomal anomalies, or to a defect in a single gene. Numerous syndromes have been reported and a growing number of genes or chromosomal anomalies are identified. The clinical observation of the face remains an essential part of the clinical evaluation of the patients. The or...

2010
Seon-Yong Jeong Bo-Young Kim Jae Eun Yu

PURPOSE The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). MATERIALS AND METHODS We studied the karyotypes of 431 neonates with congenital anomalies ...

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