title: Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.
abstract: We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: K
authors.initials: K
authors.lastname: Kok
authors.forename: A
authors.initials: A
authors.lastname: van den Berg
authors.forename: B
authors.initials: B
authors.lastname: de Jong
authors.forename: F
authors.initials: F
authors.lastname: Stellink
authors.forename: A F
authors.initials: AF
authors.lastname: Bos
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
mesh_terms: D015139:Blotting, Southern; D007446:Chromosome Inversion; D002893:Chromosomes, Human, Pair 3; D003720:Densitometry; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy
chemical_list: D005819:Genetic Markers