Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11. 2 have been implicated in childhood-onset developmental disorders,,. We report the …

Abstract The chromosome 16p13. 11 heterozygous deletion is associated with a diverse
array of neuropsychiatric disorders including intellectual disabilities, autism, schizophrenia …

We report the identification of a recurrent, 520-kb 16p12. 1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

There is a complex relationship between the evolution of segmental duplications and
rearrangements associated with human disease. We performed a detailed analysis of one …

Deletions and reciprocal duplications of the chromosome 16p13. 1 region have recently
been reported in several cases of autism and mental retardation (MR). As genomic copy …

Objective: Rare copy number variants have been implicated in different neurodevelopmental
disorders, with the same copy number variants often increasing risk of more than one of …

Reduced fecundity, associated with severe mental disorders, places negative selection
pressure on risk alleles and may explain, in part, why common variants have not been found …

Purpose Rare, recurrent chromosome 1q21. 1 duplications have been associated with
developmental delay, congenital anomalies, and macrocephaly in children. Data on adult …

Background: Microdeletions within chromosome 15q13. 3 are associated both with a
recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and …

Abstract 22q11. 2 Deletion Syndrome (22q11. 2DS) is a common microdeletion syndrome
with congenital and late-onset features. Testing for the genomic content of copy number …