A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.
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.
Zweier
Christiane
C
Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany. christiane.zweier@humgenet.uni-erlangen.de
Trautmann
Udo
U
Ekici
Arif
A
Rauch
Anita
A
D000293:Adolescent; D000328:Adult; D020816:Amino Acid Motifs / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007596:Joints / Q000002:abnormalities; D007621:Karyotyping; D013577:Syndrome