title: A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
abstract: We delineate a pure "distal 14q duplication" phenotype, characterized by primordial short stature, mild developmental delay, and distinct facial dysmorphism with high forehead, mild hypertelorism, broad nasal bridge, dysplastic ear helices, short philtrum, thin and "cupid bow" upper lip, broad mouth, and micrognathia.
authors.affiliation: Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany. chthiel@humgenet.uni-erlangen.de
authors.forename: Christian T
authors.initials: CT
authors.lastname: Thiel
authors.forename: Helmuth-Günther
authors.initials: HG
authors.lastname: Dörr
authors.forename: Udo
authors.initials: U
authors.lastname: Trautmann
authors.forename: Juliane
authors.initials: J
authors.lastname: Hoyer
authors.forename: Kristin
authors.initials: K
authors.lastname: Hofmann
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kraus
authors.forename: Arif B
authors.initials: AB
authors.lastname: Ekici
authors.forename: André
authors.initials: A
authors.lastname: Reis
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D020440:Gene Duplication; D006130:Growth Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D019382:Human Growth Hormone / Q000378:metabolism*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D009490:Neurosecretory Systems / Q000503:physiopathology*
chemical_list: D019382:Human Growth Hormone