Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.
Mosca
A L
AL
Département de Génétique, CHU le Bocage, Dijon, France. anne-laure.mosca-boidron@chu-dijon.fr
Callier
P
P
Masurel-Paulet
A
A
Thauvin-Robinet
C
C
Marle
N
N
Nouchy
M
M
Huet
F
F
Dipanda
D
D
De Paepe
A
A
Coucke
P
P
Mugneret
F
F
Faivre
L
L
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping