Ontology highlight
ABSTRACT:
SUBMITTER: Abreu-Gonzalez M
PROVIDER: S-EPMC3789327 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Abreu-González M M García-Delgado C C Cervantes A A Aparicio-Onofre A A Guevara-Yáñez R R Sánchez-Urbina R R Gallegos-Arreola M P MP Luna-Angulo A A Estrada F J FJ Morán-Barroso V F VF
Case reports in genetics 20130918
Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%-75% of cases are derived from a balanced translocation. We describe a family with a pu ...[more]