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
; 51(4): 362-7, 2008.
Article
in En
| MEDLINE
| ID: mdl-18434272
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 14
/
Developmental Disabilities
/
Human Growth Hormone
/
Gene Duplication
/
Facial Bones
/
Growth Disorders
/
Neurosecretory Systems
Type of study:
Risk_factors_studies
Limits:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2008
Document type:
Article
Affiliation country:
Germany