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

Christian T Thiel; Helmuth-Günther Dörr; Udo Trautmann; Juliane Hoyer; Kristin Hofmann; Cornelia Kraus; Arif B Ekici; André Reis; Anita Rauch

doi:10.1016/j.ejmg.2008.03.001

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

Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20.

Authors

Christian T Thiel¹, Helmuth-Günther Dörr, Udo Trautmann, Juliane Hoyer, Kristin Hofmann, Cornelia Kraus, Arif B Ekici, André Reis, Anita Rauch

Affiliation

¹ Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany. [email protected]

PMID: 18434272
DOI: 10.1016/j.ejmg.2008.03.001

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.

Publication types

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

MeSH terms

Abnormalities, Multiple / genetics
Adult
Child
Child, Preschool
Chromosomes, Human, Pair 14 / genetics*
Developmental Disabilities / genetics*
Facial Bones / abnormalities*
Female
Gene Duplication*
Growth Disorders / genetics*
Growth Disorders / metabolism
Growth Disorders / physiopathology
Human Growth Hormone / metabolism*
Humans
Hypertelorism / genetics
Neurosecretory Systems / physiopathology*

Substances

Human Growth Hormone