title: Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.
abstract: A patient with a de novo cryptic 7q36.2q36.3 deletion presented with multiple congenital eye abnormalities, short stature and craniofacial dysmorphism, in the absence of intellectual disability. This report further delineates the 7q36 microdeletion syndrome.
authors: Centro Hospitalar e Universitário de Coimbra, Departamento Pediátrico, Serviço de Genética Medica, Coimbra, Portugal. ana.beleza@chc.min-saude.pt
authors: Ana
authors: A
authors: Beleza-Meireles
authors: Eunice
authors: E
authors: Matoso
authors: Lina
authors: L
authors: Ramos
authors: Joana B
authors: JB
authors: Melo
authors: Isabel M
authors: IM
authors: Carreira
authors: Eduardo D
authors: ED
authors: Silva
authors: Jorge M
authors: JM
authors: Saraiva
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques