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Review
. 2014 Mar;37(1 Suppl):210-9.
doi: 10.1590/s1415-47572014000200007.

New microdeletion and microduplication syndromes: A comprehensive review

Julián Nevado  1 , Rafaella Mergener  2 , María Palomares-Bralo  1 , Karen Regina Souza  2 , Elena Vallespín  1 , Rocío Mena  1 , Víctor Martínez-Glez  1 , María Ángeles Mori  1 , Fernando Santos  3 , Sixto García-Miñaur  3 , Fé García-Santiago  4 , Elena Mansilla  4 , Luis Fernández  5 , María Luisa de Torres  4 , Mariluce Riegel  6 , Pablo Lapunzina  7
Affiliations
Review

New microdeletion and microduplication syndromes: A comprehensive review

Julián Nevado et al. Genet Mol Biol. 2014 Mar.

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.

Keywords: chromosome rearrangement; microdeletion; microduplication; novel deletions; novel duplications.

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Figures

Figure 1
Figure 1
Chromosome microduplications and microdeletions. A: 3q29 microduplication. B: 8q21 microdeletion. C: Chromosome 9 profile showing a 9p13 microdeletion. D: Atypical microdeletion of 9q34. E: Partial aCGH in a patient with a 16p11.2 microdeletion.
Figure 2
Figure 2
A: 16p12.2 deletion (array-cgh) and B: (FISH). C: 17p13.3 duplication (array-cgh) and D (FISH). E: 17q12 deletion (array-cgh).
Figure 3
Figure 3
New microdeletion and microduplication syndromes discovered over the last three to five years. Red squares indicate reported microdeletions; blue circles indicate reported microduplications.
See this image and copyright information in PMC

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