Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Background: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders.

Methods: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA.

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.

Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.

Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst.

We report the results of cytogenetic analysis of a case of unicameral bone cyst with a t(16;20(p11.2;q13) present as the sole abnormality. To our knowledge, this is only the second report of a cytogenetically characterized tumor of this type.

Fetal-type hepatoblastoma and del(3)(q11.2q13.2).

Hepatoblastoma is a rare embryonal malignancy of children. Trisomies or gains of chromosomes 1q, 2, 8, and 20 and a der(4)t(1;4)(q12;q34) have been described in hepatoblastoma. Herein, we describe a stage I fetal-type hepatoblastoma associated with a del(3)(q11.