New microdeletion and microduplication syndromes: A comprehensive review.
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.
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Julián
J
Nevado
Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre,RS, Brazil .
Rafaella
R
Mergener
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
María
M
Palomares-Bralo
Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre,RS, Brazil .
Karen Regina
KR
Souza
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Elena
E
Vallespín
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Rocío
R
Mena
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Víctor
V
Martínez-Glez
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Functional and Structural Genomics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
María Ángeles
MÁ
Mori
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Fernando
F
Santos
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Sixto
S
García-Miñaur
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Cytogenetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Fé
F
García-Santiago
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Cytogenetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Elena
E
Mansilla
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Preanalytics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Luis
L
Fernández
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Cytogenetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
María Luisa
ML
de Torres
Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre,RS, Brazil . ; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil .
Mariluce
M
Riegel
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain . ; Section of Clinical Genetics, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain . ; Section of Molecular Endocrinology, Overgrowth Disordes Laboratory, Instituto de Genética Médica y Molecular, Hospital Universitario la Paz, Madrid, Spain .
Pablo
P
Lapunzina
chromosome rearrangement; microdeletion; microduplication; novel deletions; novel duplications