Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.
We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. His karyotype was normal (46, XY) and fluorescence in situ hybridization (FISH) showed no deletion of the CREBBP [cAMP response element-binding (CREB) binding protein] gene on chromosome 16p13.3. CREBBP gene sequencing also revealed normal results. We wish to present this case because this patient had typical RSTS phenotype, but normal FISH and CREBBP gene sequencing results. It could be possible that genetic heterogeneity is related with novel mutations in other genes. With the publication of such cases, their significance will be brought to the attention of researchers in this field.
Balci
Sevim
S
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ergün
Mehmet Ali
MA
Yüksel-Konuk
E Berrin
EB
Bartsch
Oliver
O
D002648:Child; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*
D017362:Cyclic AMP Response Element-Binding Protein