نتایج جستجو برای: inherited abnormality
تعداد نتایج: 176765 فیلتر نتایج به سال:
skeletal abnormalities are most often used to describe defects in the arms or legs that are associated with genes or chromosomes, or that occur due to an event that happens during pregnancy. spider lamb syndrome (sls) is a congenital disorder in sheep breeding that is recognized by some deformities in skeletal system especially in the limbs.a dead day-old cross-breed white lamb with deformed li...
Skeletal abnormalities are most often used to describe defects in the arms or legs that are associated with genes or chromosomes, or that occur due to an event that happens during pregnancy. Spider lamb syndrome (SLS) is a congenital disorder in sheep breeding that is recognized by some deformities in skeletal system especially in the limbs.A dead day-old cross-breed white lamb with deformed li...
The finding of an inherited chromosome abnormality (Chl) in several members of a family, including two who had developed chronic lymphocytic leukaemia (Gunz, Fitzgerald, and Adams, i962), led to the suggestion that this abnormality predisposed its carriers to the development of the disease, and that inherited cytogenetic abnormalities of this type might determine some instances of familial leuk...
Background: β-thalassemia, a severe form of anemia, is an inherited blood disorder characterized by growth retardation, splenomegaly, and bone abnormalities. Complications related to treatment-induced iron overload also affect the quality of life of patients with major β-thalassemia. Some recent studies indicated cerebral hemodynamic disorders and increased risk of stroke in these patients. The...
TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and ...
An inborn error of metabolism is a metabolic defect caused by an abnormality in one or more genes. An abnormality present at birth is not necessarily inborn: the foetus may acquire congenital disease such as syphilis or deformity through intrauterine injury. Of more direct nutritional interest are the diseases of the newborn that occur through administration of substances to the pregnant woman ...
TABLE OF CONTENTS Inherited and non-inherited deviations from bilateral symmetry. ....................... 445 Specificity of transmission in respect to the side affected. ......................... 447 The inheritance of asymmetry per se with no agreement between corresponding sides of the body in related individuals. ........................................... 451 The non-inheritance of asymmet...
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