A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.
Eur J Med Genet
; 51(4): 358-61, 2008.
Article
in En
| MEDLINE
| ID: mdl-18342594
ABSTRACT
We report on a female patient carrying a de novo 15Mb duplication of 6q24.1-q25.3 detected by conventional karyotyping and fine-mapped by molecular karyotyping with a 250K SNP array. Pure interstitial duplications of 6q are rarely reported in the literature and none of them exactly mapped by array technique so far. Our patient shows typical aspects of the "duplication 6q" syndrome such as hypertelorism, downslanting palpebral fissures, carp shaped mouth and joint contractures, but milder mental retardation and no growth retardation.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 6
/
Chromosome Aberrations
/
Gene Duplication
Type of study:
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Eur J Med Genet
Journal subject:
GENETICA MEDICA
Year:
2008
Document type:
Article
Affiliation country:
Germany