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Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
Ligation Mental Retardation Hypersomnolence Idiopathic
2015/10/9
Background: Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adapt...
A REPORT OF 4 CASES OF CHROMOSOME ABNORMALITIES IN 115 FAMILIES WITH CONSANGUINEOUS MARRIAGE
Chromosome study Genetic counseling
2009/12/30
115 couples with consanguineous marriage, who had experienced reported abortions or still births either in their close relatives (3 couples) or themselves (1 couple) were exposed to genetic counseling...
Hepatoerythropoietic Porphyria and Cerebral Abnormalities
Hepatoerythropoietic Porphyria Cerebral Abnormalities
2009/7/6
In porphyrias, hereditary enzyme deficiency can be recognized in the red blood cells. Four enzymes of hema biosynthesis can be detected: porphobilinogen synthase (delta-aminolevulinic acid dehydrase),...
The Frequency of Chromosomal Abnormalities in Men With Azoospermia and Oligoasthenoteratozoospermia: a Preliminary Study
Male infertility chromosomal abnormalities
2009/7/6
The aim of this study is to investigate the frequency of chromosomal abnormalities in men with severe andrological infertility, In 50 men with azoospermia and severe oligoasthenoteratozoospermia (OAT)...
Red Cell Membrane Protein Abnormalities of A Family with Hereditary Spherocytosis in Adana
Hereditary Spherocytosis Spectrin Ankyrin Band 3 Red Cell Membrane
2009/7/3
To investigate erythrocyte membrane protein abnormalities in Çukurova region we studied a family observed to be hereditary spherocytosis. Diagnosis was made basis of clinical features. By densi...