Screening for chromosomal aberrations by array CGH in 74 patients with congenital hypothyroidism

ABSTRACT: Congenital Hypothyroidism occurs in 1:3500 live births and is therefore the most common congenital endocrine disorder. A spectrum of defective thyroid morphology, termed thyroid dysgenesis, represents 80% of permanent CH cases. Although several candidate genes have been implicated in thyroid development, comprehensive screens failed to detect mutation carriers in a significant number of patients with non-syndromic TD. Due to the sporadic occurrence of TD, de novo chromosomal rearrangements are conceivably representing one of the molecular mechanisms participating in its aetiology. Recently, the use of array CGH technique has provided the ability to map these variations genomewide with high resolution. We performed an array CGH screen of 74 TD patients to determine the role of copy number v

ORGANISM(S): Homo sapiens

SUBMITTER: Reinhard Ullmann 

PROVIDER: E-GEOD-18152 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress