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Familial occurrence of lip pits:A case report
Lip pits deformities autosomal dominant trait
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2009/12/24
Lip pits are among the rarest congenital deformities recorded. Initially reported in 1845, it’s familial occurrence has been reported just once. These developmental anomalies occur either as an isolat...
A Father Born to Consanguineous Parents Had Double Translocation 21;22 [44,XY,t(21q;22q),t(21q;22q)] Due to Familial Translocation in Four Generations
Double translocation Down Syndrome
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2009/6/29
Robertsonian translocations are the most common translocations found in humans (1). The breakpoints forming these rearrangements are at or near the centromers of both chromosomes involved. The carrier...
Mutational Analysis of the MEFV Gene in Egyptian Patients with Familial Mediterranean Fever
Department of Paediatric Molecular Genetics,Faculty of Medicine,Ankara University,Ankara-TURKEY Children's Hospital,Ain Shams University,Cairo,EGYPT
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2009/5/20
Aim: Familial Mediterranean fever is an autosomal recessive disease affecting primarily populations surrounding the Mediterranean basin. The aim of this study was to find the distribution of MEFV gen...
Congratulation to Margaret Chan Familial and Sporadic GJB2-Related Deafness in Iran: Review of Gene Mutations
Connexin 26 Deafness Autosomal recessive non syndromic hearing loss Iran
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2010/4/6
Background: Mutations in the GJB2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. Here, we have taken togethe...
Familial Chondrocalcinosis:Report of the Case in Two Sisters
chondrocalcinosis familial Iran
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2010/4/9
Chondrocalcinosis is a chronic and progressive inflammatory joint disease with acute episodes of arthritis, which may be associated with other metabolic diseases or transmitted as a genetic disorder. ...
Familial Chondrocalcinosis:Report of the Case in Two Sisters
chondrocalcinosis familial Iran
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2010/4/9
Chondrocalcinosis is a chronic and progressive inflammatory joint disease with acute episodes of arthritis, which may be associated with other metabolic diseases or transmitted as a genetic disorder. ...
FAMILIAL DEFECTIVE APOLIPORROTEIN B 100: FREQUENCY OF R3500Q MUTATION OF APOLIPOROTEIN B GENE IN IRANIAN HYPERCHOLESTEROLEMIC PATIENTS
Familial defective apolipoprotein familial hypercholesterolemia
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2010/2/3
Familial defective apolipoprotein (apo) B 100 (FDB) causes early-onset coronary heart diseases (CHD). It is produced by R3500Q mutation of the apoB gene resulting in decreased binding of LDL to LDL re...