Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.
19p13.13 microdeletion has been consistently associated with intellectual disability, overgrowth, and macrocephaly. We report a 19p13.13 microdeletion, detected by array CGH, in a girl with moderate intellectual disability, overgrowth with macrocephaly, prominent digit pads and deep digital creases, hypotonia, ataxia, and strabismus. This clinical report helps to delineate the role of some of the deleted genes, as well as the phenotype of recently described 19p13.13 microdeletion syndrome, including the description of novel digital abnormalities.
Department of Paediatrics, São João Hospital Centre, Porto, Portugal.
Rita
R
Jorge
Department of Paediatrics, São João Hospital Centre, Porto, Portugal.
Carmen
C
Silva
Department of Paediatrics, São João Hospital Centre, Porto, Portugal.
Sofia
S
Águeda
Department of Genetics, Faculty of Medicine, Porto, Portugal.
Sofia
S
Dória
Department of Genetics, Faculty of Medicine, Porto, Portugal.|Paediatric Neurology Unit, Department of Paediatrics, São João Hospital Centre, Porto, Portugal.
Miguel
M
Leão
D002675:Child, Preschool; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D048788:Growth and Development; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D013577:Syndrome
19p13.13 microdeletion; NFIX; finger pads; intellectual disability; overgrowth