LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq27 localization chromosomal disorders chromosomal fragility, instability, breakage chromosome breakage syndromes foetal-amniotic biochemical data hypoxanthine-guanine phpsphoribosyltransferase defect (foetal) gene, structural-functional anomalies gene ana...

Disorders of Sex Development (DSD) are congenital conditions in which the chromosomal, gonadal, or anatomical development sex is atypical. DSD can occur due to variations chromosomes autosomes, genes related gonadal genital development, alterations hormone production by reproductive organs. These range from common abnormalities such as cryptorchidism and hypospadias rare complex complete revers...

This study aimed to investigate the detection rate of chromosome abnormalities in children suspected with congenital disorders in 1 single center, identify any differences according to different classification criteria, and try to enlighten the medical professionals what clinical features should be transferred for cytogenetic analysis.From January 1, 2011 to March 31, 2014, children who were su...

Genetic disorders are diseases in which genetic factors play an important role in their etiology. They are classified into chromosomal abnormalities, monogenic and multifactorial disorders. While chromosomal abnormalities and monogenic disorders are purely genetic in nature, multifactorial disorders are produced by the interaction between environmental and genetic factors. Although most genetic...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for c...

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degeneration. This group of disorders essentially leads to blindness due to mutations in different genes. The genetic basis affected by sporadic and inherited autosomal dominant, autosomal recessive or X-linked mutations is complex. In humans, RP is in most cases associated with missense mutations in the rhodopsin gene (RHO...

Genital ambiguity, is defined as a group of congenital conditions in which development chromosomal, gonadal, or anatomic sex atypical. It constitutes major social emergency and the decision making relation to assignment has been perceived an extremely disturbing difficult both families health care professionals. can also be medical it may lead life-threatening adrenal crisis. Each patient shoul...