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.
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.
Thiel
Christian T
CT
Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, Erlangen 91054, Germany. chthiel@humgenet.uni-erlangen.de
Dörr
Helmuth-Günther
HG
Trautmann
Udo
U
Hoyer
Juliane
J
Hofmann
Kristin
K
Kraus
Cornelia
C
Ekici
Arif B
AB
Reis
André
A
Rauch
Anita
A
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*
D019382:Human Growth Hormone