نتایج جستجو برای: digeorge syndrome
تعداد نتایج: 621981 فیلتر نتایج به سال:
Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions....
Fluorescent in situ hybridisation (FISH) is a complementary cytogenetic method which has an important role in discovering unsolved cases of mental retardation and multiple anomalies. The ability of this method to detect complex and cryptic chromosomal rearrangements exceeds the resolution of the usual cytogenetic banding techniques; therefore it has a wide implementation in modern cytogenetic l...
CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of featu...
BACKGROUND HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are repo...
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