Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

Background De novo copy number variation (CNV) can occur constitutionally in gametogenesis or in early development leading to sporadic genomic disorders. Such de novo CNVs appear to also be important in somatic mutagenesis relevant to cancer and population events important to species evolution. Since large pathological CNVs are rarely observed at more than one locus in a single patient, and are...

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.

We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT-proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. Using high resolution chromosomal microarray analysis, we identified a de novo deletion of 555 kb on chromosome...

De novo ring chromosome 6 in a child with multiple congenital anomalies.

Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child...

Multiple Recurrent De Novo Copy Number Variations, Including Duplications of the 7q11.23 Williams- Beuren Syndrome Region, Are Associated with Autism

Copy number variations exploration of multiple genes in Graves’ disease

BACKGROUND Few previous published papers reported copy number variations of genes could affect the predisposition of Graves' disease (GD). Herein, the aim of this study was to explore the association between copy number variations (CNV) profile and GD. METHODS The preliminary copy number microarray used to screen copy number variant genes was performed in 6 GD patients. Five CNV candidate gen...