Intellectual disability (ID) is the leading socio-economic problem of health care, but
compared to autism and schizophrenia, it has received very little public attention. Important …

We review the contributions and limitations of genome-wide array-based identification of
copy number variants (CNVs) in the clinical diagnostic evaluation of patients with mental …

Abstract The Koolen-de Vries syndrome (KdVS; OMIM# 610443), also known as the 17q21.
31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by …

Abstract Chromosomal band 1q21. 1 can be divided into two distinct regions, proximal and
distal, based on segmental duplications that mediate recurrent rearrangements …

An association between autism and macrocephaly has been previously described. A subset
of cases with extreme macrocephaly (> 3 standard deviation [SD], 99.7 th percentile) have …

High-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but
compared with X-linked and autosomal dominant diseases, the search for genetic defects …

DUF1220 protein domains exhibit the most extreme human lineage–specific (HLS) copy
number increase of any protein coding region in the human genome and have recently been …

More than 50% of myeloma cases have normal karyotypes under conventional cytogenetic
analysis due to low mitotic activity and content of plasma cells in the bone marrow. We used …

Until recently, the cause of intellectual disability (ID) remained unexplained in at least 50%
of affected individuals. Recent advances in genetic technologies led to great new …

We report the case of a 26-month-old boy with mental retardation, facial dysmorphism,
childhood feeding difficulties, short stature, bilateral cryptorchidism, micropenis, and heart …