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GENATLAS PHENOTYPE

last update : 04-04-2013

Symbol	DUP5QD
Location	5q35.2
Name	chromosome 5q distal duplication
Other name(s)	trisomy 5qter Hunter-McAlpine syndrome Hunter-McAlpine craniosynostosis syndrome
Corresponding gene	MSX2 , NKX2-5 , FGFR4
Main clinical features	microcephaly and craniosynostosis or abnormal skull shape in most patients prominent or broad nasal bridge, thin upper lip congenital heart defects variable mental retardation/developmental delay ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3 PMID: 21567924 bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3, PMID:23342975
Genetic determination	chromosomal
Function/system disorder
Type	MCA/MR

Remark(s)

Genotype/Phenotype correlations

microduplications in non-coding regions upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia PMID: 22717651