title: Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
abstract: We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas, Campinas, São Paulo, Brazil.
authors.forename: Érika L
authors.initials: ÉL
authors.lastname: Freitas
authors.forename: Susan M
authors.initials: SM
authors.lastname: Gribble
authors.forename: Milena
authors.initials: M
authors.lastname: Simioni
authors.forename: Társis P
authors.initials: TP
authors.lastname: Vieira
authors.forename: Roseane L
authors.initials: RL
authors.lastname: Silva-Grecco
authors.forename: Marly A S
authors.initials: MA
authors.lastname: Balarin
authors.forename: Elena
authors.initials: E
authors.lastname: Prigmore
authors.forename: Ana C
authors.initials: AC
authors.lastname: Krepischi-Santos
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.forename: Karoly
authors.initials: K
authors.lastname: Szuhai
authors.forename: Arie
authors.initials: A
authors.lastname: van Haeringen
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Carter
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D059786:Abnormal Karyotype; D000293:Adolescent; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D051858:Forkhead Transcription Factors / Q000235:genetics; D015894:Genome, Human; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D008677:Metaphase; D010808:Physical Examination; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: C516591:DOCK8 protein, human; C470165:FOXD4 protein, human; D051858:Forkhead Transcription Factors; D020662:Guanine Nucleotide Exchange Factors