A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.
Departments of Pediatric Genetics Plastic Surgery, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey Department of Human Genetics, Nijmegen Medical Centre, Radboud University, Nijmegen, The Netherlands.
Beyhan
B
Tüysüz
Bregje W M
BWM
van Bon
Zeynep
Z
Alp
Zeki
Z
Güzel
Joris A
JA
Veltman
Bert B A
BBA
de Vries
D002675:Child, Preschool; D058674:Chromosome Duplication / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012415:Rubinstein-Taybi Syndrome / Q000150:complications / Q000235:genetics*