title: Another rare case of a child with de novo terminal 9p deletion and co-existing interstitial 9p duplication: clinical findings and molecular cytogenetic study by array-CGH.
abstract: Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient's karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24.2 (1-2,414,485)×1,9p24.2p21.3(2,414,485-24,101,280)×3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21.3. The clinical and cytogenetic findings in our and other similar patients are compared.
authors.affiliation: Department of Medical Genetics, Medical University of Silesia, Sosnowiec, Poland. mary.kow@interia.pl
authors.forename: M
authors.initials: M
authors.lastname: Kowalczyk
authors.forename: A
authors.initials: A
authors.lastname: Tomaszewska
authors.forename: A
authors.initials: A
authors.lastname: Podbioł-Palenta
authors.forename: M
authors.initials: M
authors.lastname: Constantinou
authors.forename: A
authors.initials: A
authors.lastname: Wawrzkiewicz-Witkowska
authors.forename: J
authors.initials: J
authors.lastname: Kowalski
authors.forename: B
authors.initials: B
authors.lastname: Kałużewski
authors.forename: S
authors.initials: S
authors.lastname: Zajączek
authors.forename: M I
authors.initials: MI
authors.lastname: Srebniak
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant