A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome

Clin Dysmorphol. 2014 Apr;23(2):67-70. doi: 10.1097/MCD.0000000000000035.

Authors

Johanna Christina Czeschik¹, Beate Albrecht, Hülya Kayserili, Alma Kuechler, Nicholas Wagner, Dagmar Wieczorek, Hermann-Josef Lüdecke

Affiliation

¹ Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

PMID: 24561647
DOI: 10.1097/MCD.0000000000000035

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Chromosome Deletion*
Chromosomes, Human, Pair 3 / genetics*
Developmental Disabilities / genetics
Developmental Disabilities / physiopathology
Female
Humans
Mutation
Rubinstein-Taybi Syndrome / etiology
Rubinstein-Taybi Syndrome / genetics*
Rubinstein-Taybi Syndrome / physiopathology