Abstract
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion and microduplication syndromes that have been described and recognized in recent years with the aim of summarizing their main characteristics and chromosomal regions involved. We decided to group them by genomic region and within these groupings have classified them into those that include ID, MCA, ASD or other findings. This review does not intend to be exhaustive but is rather a quick guide to help pediatricians, clinical geneticists, cytogeneticists and/or molecular geneticists.
Highlights
Alteration of gene dosage due to gains or deletions of large genomic regions causes many genetic disorders that are frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings (Lupski and Stankiewicz, 2005) The advances in the use of microarrays
The identification of novel syndromes is based on consistent, clinically recognizable features associated with a common chromosomal region; for some copy number variations (CNVs), variability in expression and penetrance of clinical manifestations have complicated the establishment of their clinical significance
The delineation of novel syndromes may start with the identification of overlapping genotypes, that is, a ‘genotype-first’ approach, in which patients are characterized by a similar genomic aberration before a common clinical presentation is delineated
Summary
Julián Nevado1,2*, Rafaella Mergener3*, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel3,7$ and Pablo Lapunzina1,4,8$
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