title: Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
abstract: We report on a patient with an interstitial 6q deletion presenting with moderate mental retardation, persisting hypotonia, facial dysmorphism, but no internal malformations. Standard cytogenetic analysis identified a de novo interstitial 6q deletion. Molecular karyotyping using a 1 Mb array estimated the size of the deletion at approximately 14 Mb encompassing band q16 of chromosome 6. This case report illustrates how the molecular delineation enables improved genotype-phenotype correlations of chromosomal abnormalities to be made and may improve medical care and genetic counselling in individuals with chromosomal imbalances.
authors.affiliation: Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium. lecaignec@hotmail.com
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Caignec
authors.forename: Ann
authors.initials: A
authors.lastname: Swillen
authors.forename: Elvire
authors.initials: E
authors.lastname: Van Asche
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D042822:Genomic Instability; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D013577:Syndrome