title: Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.
abstract: We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima.
authors.affiliation: Institute of Human Genetics, Charité Universitary Medicine Berlin, Campus Virchow, Humboldt University, Berlin, Germany. marc.trimborn@charite.de
authors.forename: Marc
authors.initials: M
authors.lastname: Trimborn
authors.forename: Rolf-Dieter
authors.initials: RD
authors.lastname: Wegner
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
authors.forename: Nanette
authors.initials: N
authors.lastname: Sarioglu
authors.forename: Matthias
authors.initials: M
authors.lastname: Albig
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D001158:Arteries / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D005145:Face / Q000002:abnormalities*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D009154:Mutation; D010053:Ovary / Q000002:abnormalities*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013961:Thyroid Gland / Q000098:blood supply