PMID- 18773673
OWN - NLM
STAT- MEDLINE
DCOM- 20081024
LR  - 20080908
IS  - 0041-4301 (Print)
IS  - 0041-4301 (Linking)
VI  - 50
IP  - 3
DP  - 2008 May-Jun
TI  - Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a 
      case report.
PG  - 265-8
AB  - 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.
FAU - Balci, Sevim
AU  - Balci S
AD  - Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, 
      Turkey.
FAU - Ergun, Mehmet Ali
AU  - Ergun MA
FAU - Yuksel-Konuk, E Berrin
AU  - Yuksel-Konuk EB
FAU - Bartsch, Oliver
AU  - Bartsch O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Turkey
TA  - Turk J Pediatr
JT  - The Turkish journal of pediatrics
JID - 0417505
RN  - 0 (Cyclic AMP Response Element-Binding Protein)
SB  - IM
MH  - Child
MH  - Cyclic AMP Response Element-Binding Protein/*genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Male
MH  - Rubinstein-Taybi Syndrome/*genetics
EDAT- 2008/09/09 09:00
MHDA- 2008/10/25 09:00
CRDT- 2008/09/09 09:00
PHST- 2008/09/09 09:00 [pubmed]
PHST- 2008/10/25 09:00 [medline]
PHST- 2008/09/09 09:00 [entrez]
PST - ppublish
SO  - Turk J Pediatr. 2008 May-Jun;50(3):265-8.