Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization

• Published in: American journal of medical genetics. Part A Vol. 155; no. 11; pp. 2754 - 2761
• Main Authors: Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva‐Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi‐Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil‐da‐Silva‐Lopes, Vera Lúcia
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2011; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Abnormal Karyotype; Adolescent; array‐CGH; Bacterial artificial chromosomes; Biological and medical sciences; Bone morphogenetic protein 2; Child, Preschool; chromosomal aberration; chromosome 20; Chromosome aberrations; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 20 - genetics; Chromosomes, Human, Pair 9 - genetics; Classical genetics, quantitative genetics, hybrids; Comparative Genomic Hybridization - methods; copy number; Development; Developmental Disabilities - genetics; Developmental Disabilities - pathology; DNA; DNA Copy Number Variations; Fluorescence in situ hybridization; Forkhead Transcription Factors - genetics; Fundamental and applied biological sciences. Psychology; gene duplication; Gene mapping; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Genomes; genomics; Guanine Nucleotide Exchange Factors - genetics; Human; Humans; In Situ Hybridization, Fluorescence; Inheritance Patterns; Intellectual Disability - genetics; Intellectual Disability - pathology; Male; Medical genetics; Medical sciences; Metaphase; midline; MKKS protein; Monosomy; monosomy 9p; multiple congenital anomalies; Neonates; Physical Examination; Trisomy; Trisomy - diagnosis; Trisomy - genetics; Trisomy - pathology; trisomy 20p; Chromosomal aberration; Genetic mapping; multiple congenital anomalies; Multiple; Partial trisomy; Congenital anomaly; Chromosome C9; Partial monosomy; array-CGH; Comparative genomic hybridization; Malformation; Abnormal chromosome; midline; monosomy 9p; trisomy 20p
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.34168

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. © 2011 Wiley Periodicals, Inc.