Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases.

摘要: The proximal portion of human chromosome 22q has been implicated in the pathogenesis a clinically diverse group conditions including DiGeorge sequence (DGS), velocardiofacial syndrome, and CHARGE association as well isolated conotruncal heart anomalies. Frequently, overlap clinical presentation these syndromes occurs and, recently, presence microdeletions on 22q11.2 with varying frequencies demonstrated syndromes. Using fluorescence situ hybridization (FISH), we assessed 20 consecutive patients who were cytogenetically evaluated for suspected syndrome that could be due to microdeletion 22q11.2. After cytogenetic testing full evaluation, compared results by FISH final diagnosis karyotype results. We found detected three five DGS. cases appeared have DGS while two negative more atypical. High-resolution banding techniques did not detect any cases; however, one had translocation between chromosomes 13 22. This patient also features None disorders related showed microdeletions. conclude is useful, easily applied technique syndromes, particularly test may useful genetic counseling both prenatal postnatal diagnoses.