Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal growth retardation, microcephaly, ectodermal dysplasia, and genital malformations in males. A 324-kb critical region was previously identified as the smallest region of overlap (SRO) for this syndrome.

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Objective: To demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience.

Methods: Prenatal samples received from 2004 to 2011 for a variety of indications (n = 5003) were tested using comparative genomic hybridization-based microarrays targeted to known chromosomal syndromes with later versions of the microarrays providing backbone coverage of the entire genome.

Results: The overall detection rate of clinically significant copy number alterations (CNAs) among unbiased, nondemise cases was 5.

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

Objective: The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings.

Methods: We performed a retrospective analysis of 2858 pregnancies with abnormal ultrasounds and normal karyotypes (when performed) tested in our laboratory using CGH microarrays targeted to known chromosomal syndromes with later versions providing backbone coverage of the entire genome. Abnormalities were stratified according to organ system involvement.