The Spectrum of Cytogenomic Abnormalities in Patients with Developmental Delay and Intellectual Disabilities
Keywords:
array comparative genomic hybridization (aCGH), whole-genome sequencing (WGS), chromosomal abnormalities, copy number variant (CNV), Cryptic rearrangements, developmental delay (DD), intellectual disability (ID)Abstract
Current clinical cytogenomics laboratory uses array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) chip as first-tier test supplemented with routine karyotyping and fluorescent in situ hybridization (FISH) for patients with developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA) and autistic spectrum disorders (ASD). A spectrum of cytogenomic abnormalities including numerical chromosomal abnormalities, unbalanced and balanced structural and cryptic rearrangements, and recurrent genomic disorders have been detected 10~20% of patients with DD/ID/MCA/ASD and collectively present in approximately 0.8% of a general population. The characterization of genomic coordinates and gene contents for these abnormalities has enabled accurate mapping of candidate genes and correlating genotypes with phenotypes and thus more informative genetic counseling. Future application of WGS will expand this spectrum of cytogenomic abnormalities by including complex and cryptic structural variants. Further delineation of molecular mechanisms of these cytogenomic abnormalities and development of novel therapeutic approaches will ultimately lead to disease-specific personalized management and precision treatment.
References
Wei Y, Xu F, Li P. Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetic evaluation. J Genet Genomics. 2013;40(1):1-14.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742-745.
Xiang B, Xu F, Zeng W, Zi D, Ma D. Navigating web-based resources for genetic testing of chromosome abnormalities, CNVs and gene mutations. N A J Med Sci. 2014;7(4):163-170.
Tjio JH, Levan A. The chromosome number of Man. Hereditas 1956;42(1-2):1-6.
Lejeune J, Gautier M, Turpin R. Study of somatic chromosomes from 9 mongoloid children. C R Hebd Seances Acad Sci. 1959;248(11):1721- 1722.
Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH. A sex- chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet. 1959;273(7075):711-713.
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183(4657):302–303.
Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960;275(7128):790–793.
Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trisomic syndrome. Lancet. 1960;275(7128):787-790.
Caspersson T, Farber S, Foley GE, et al. Chemical differentiation along metaphase chromosomes. Exp Cell Res. 1968;49(1):219–222.
Shaffer LG, McGowan-Jordan J, Schmid M (eds). ISCN (2013): An international system for human cytogenetic nomenclature, S.Karger, Basel 2013.
Langer-Safer PR, Levine M, Ward DC. Immunological method for mapping genes on Drosophila polytene chromosomes. Proc Natl Acad Sci USA. 1982;79(14):4381-4385.
Ried T, Landes G, Dackowski W, Klinger K, Ward DC. Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells. Hum Mol Genet. 1992;1(5):307-313.
Ning Y, Roschke A, Smith AC, et al. A complete set of human telomeric probes and their clinical application. Nat Genet. 1996;14(1):86-89.
Shaffer LG, American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med. 2005;7(9):650- 654.
Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;25895083):818-821.
Schena M, Shalon D, Davis RW, Brown PO. Quantitative monitoring of gene expression patterns with a complementary DNA microarray. Science. 1995;270(5235):467–470.
Xiang B, Li A, Valentin D, Novak N, Zhao H-Y, Li P. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet. 2008;146A(15):1942- 1954.
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-454.
Xu F, Li P. Chapter 1: Cytogenomic abnormalities and dosage- sensitive mechanisms for intellectual and developmental disabilities. In Ahmad Salehi (eds) Developmental Disabilities--Molecules Involved, Diagnosis and Clinical Care. InTech, 2013:pp1-30.
Xiang B, Zhu H, Shen Y, et al. Genome-wide oligonucleotide array CGH for etiological diagnosis of mental retardation: A multi-center experience of 1,499 clinical cases. J Mol Diagn. 2010;12(2):204-212.
Talkowski ME, Rosenfeld JA, Blumenthal I, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149(3):525-537.
Ordulu Z, Wong KE, Currall BB, et al. Describing sequencing results of structural chromosome rearrangements with a suggested next- generation cytogenetic nomenclature. Am J Hum Genet. 2014;94(5):695-709.
McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, et al.; MedSeq Project. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014;15:134.
Shevell M, Ashwal S, Donley D, et al; Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child Neurology Society. Parctice parameter: evaluation of the child with global developmental delay: report of the quality standards subcommittee of the child neurology society. Neurology. 2003;60(3):367-380.
Xu F, Li L, Schulz VP, et al. Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectural disabilities. Mol Cytogenet. 2014;7(1):4.
Nussbaum RL, McInnes RR, Willard HF, Hamosh A. Thompson & Thompson Genetics in Medicine, 7th edition. p76.
Li P, Zhang HZ, Huff S, et al. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet. 2006;140A(24):2721-2729.
Khattab M, Xu F, Li P, Bhandari V. A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: A case report and review of literature. Am J Med Genet. 2011;155A(12):3082-3086.
Rossi MR, DiMaio M, Xiang B, et al. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. Am J Med Genet. 2009;149A(12):2788-2794.
Cook S, Wilcox K, Grommisch B, Li P, Xu F. Prenatal diagnosis of Xq26.1-q26.3 duplication in two fetuses of a woman with gonadal mosaicism. N A J Med Sci. 2014;7(4):176-179.
Wei Y, Gao X, Yan L, Xu F, Li P, Zhao Y. Prenatal diagnosis and postnatal follow up of partial trisomy 13q and partial monosomy 10p: A case report and review of the literature. Case Rep Genet. 2012;821347.
Li P, Pomianowski P, DiMaio SM, et al. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet. 2011;155A(7):1605-1615.
Xu ZY, Geng Q, Luo FW, Xu F, Li P, Xie JS. Multiplex ligation- dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Mol Cytogenet. 2014;7(1):84.
Conlin LK, Kramer W, Hutchinson AL, et al. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet. 2011;48(1):1-9.
Zhang HZ, Xu F, Seashore M, Li P. Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases. Cytogenet Genome Res. 2012;136(3):180-187.
Xu F, DiAdamo AJ, Grommisch B, Li P. Interstitial duplication and distal deletion in a ring chromosome 13 with pulmonary atresia and ventricular septal defect: A case report and review of the literature. N A J Med Sci. 2013;6(4):208-212.
Tsuchiya KD, Opheim KE, Hannibal MC, et al. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet. 2008;1:7.
Kleefstra T, de Leeuw N, Wolf R, et al. Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. Am J Med Genet. 2010;152A(9):2221-2229.
Ballif BC, Rorem EA, Sundin K, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet. 2006;140A(24):2757-67.
Cheung SW, Shaw CA, Scott DA, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet. 2007;143A(15):1679-1686.
Higgins AW, Alkuraya FS, Bosco AF, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008;82(3):712-722.
De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in ‘‘balanced’’ reciprocal and complex chromosome rearrangements: A study of 59 patients. J Med Genet. 2007;44(12):750–762.
Baptista J, Mercer C, Prigmore E, et al. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet. 2008;82(4):927–936.
Cacciagli P, Haddad MR, Mignon-Ravix C, et al. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eu J Hum Genet. 2010;18(12):1360-1363.
Brownstein CA, Adler F, Nelson-Williams C, et al. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA. 2008;105(9):3455-
3460.
Talkowski ME, Ernst C, Heilbut A, et al. Next-generation sequencing
strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011;88(4):469-481.
Koolen DA, Vissers LE, Pfundt R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999-1001.
Shaw-Smith C, Pittman AM, Willatt L, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006;38(9):1032-1037.
Kirchhoff M. Bisgaard A-M, Duno M, Hansen FJ, Schwartz MA.
17q21.31 microduplication, reciprocal to the newly described 17q21.31
microdeletion, in a girl with severe psychomotor developmental delay
and dysmorphic craniofacial features. Eu J Med Genet.
2007;50(4):256-63.
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838- 846.
Donnelly MP, Paschou P, Grigorenko E, et al. The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet. 2010;86(2):161-171.
Merla G, Brunetti-Pierri N, Micale, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 regions. Hum Genet. 2010;128(1):3-26.
Weiss LA, Shen Y, Korn JM, et al; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667-675.
Jacquemont S, Reymond A, Zufferey F, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011;478(7367):97-102.
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eu J Hum Genet. 2010;18(1):8–14.
Papenhausen P, Schwartz S, Risheg H, et al. UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet. 2011;155A(4):757-768.
Kaminsky EB, Kaul V, Paschall J, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13(9):777-784.
Darilek S, Ward P, Pursley A, et al. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008;10(1):13-18.
Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing influences medical management. Genet Med. 2011;13(9):770-776.
Cubells JF, Deoreo EH, Harvey PD, et al. Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am J Med Genet. 2011;155A(4):805-810.
Brand H, Collins RL, Hanscom C, et al. Paired-duplication signatures mark cryptic inversions and other complex structural variation. Am J Hum Genet. 2015;97(1):170-176.
Suzuki T, Tsurusaki Y, Nakashima M, et al. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. J Hum Genet. 2014;59(12):649-654
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742-745.
Xiang B, Xu F, Zeng W, Zi D, Ma D. Navigating web-based resources for genetic testing of chromosome abnormalities, CNVs and gene mutations. N A J Med Sci. 2014;7(4):163-170.
Tjio JH, Levan A. The chromosome number of Man. Hereditas 1956;42(1-2):1-6.
Lejeune J, Gautier M, Turpin R. Study of somatic chromosomes from 9 mongoloid children. C R Hebd Seances Acad Sci. 1959;248(11):1721- 1722.
Ford CE, Jones KW, Polani PE, de Almeida JC, Briggs JH. A sex- chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet. 1959;273(7075):711-713.
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183(4657):302–303.
Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960;275(7128):790–793.
Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trisomic syndrome. Lancet. 1960;275(7128):787-790.
Caspersson T, Farber S, Foley GE, et al. Chemical differentiation along metaphase chromosomes. Exp Cell Res. 1968;49(1):219–222.
Shaffer LG, McGowan-Jordan J, Schmid M (eds). ISCN (2013): An international system for human cytogenetic nomenclature, S.Karger, Basel 2013.
Langer-Safer PR, Levine M, Ward DC. Immunological method for mapping genes on Drosophila polytene chromosomes. Proc Natl Acad Sci USA. 1982;79(14):4381-4385.
Ried T, Landes G, Dackowski W, Klinger K, Ward DC. Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells. Hum Mol Genet. 1992;1(5):307-313.
Ning Y, Roschke A, Smith AC, et al. A complete set of human telomeric probes and their clinical application. Nat Genet. 1996;14(1):86-89.
Shaffer LG, American College of Medical Genetics Professional Practice and Guidelines Committee. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med. 2005;7(9):650- 654.
Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;25895083):818-821.
Schena M, Shalon D, Davis RW, Brown PO. Quantitative monitoring of gene expression patterns with a complementary DNA microarray. Science. 1995;270(5235):467–470.
Xiang B, Li A, Valentin D, Novak N, Zhao H-Y, Li P. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet. 2008;146A(15):1942- 1954.
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-454.
Xu F, Li P. Chapter 1: Cytogenomic abnormalities and dosage- sensitive mechanisms for intellectual and developmental disabilities. In Ahmad Salehi (eds) Developmental Disabilities--Molecules Involved, Diagnosis and Clinical Care. InTech, 2013:pp1-30.
Xiang B, Zhu H, Shen Y, et al. Genome-wide oligonucleotide array CGH for etiological diagnosis of mental retardation: A multi-center experience of 1,499 clinical cases. J Mol Diagn. 2010;12(2):204-212.
Talkowski ME, Rosenfeld JA, Blumenthal I, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149(3):525-537.
Ordulu Z, Wong KE, Currall BB, et al. Describing sequencing results of structural chromosome rearrangements with a suggested next- generation cytogenetic nomenclature. Am J Hum Genet. 2014;94(5):695-709.
McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, et al.; MedSeq Project. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet. 2014;15:134.
Shevell M, Ashwal S, Donley D, et al; Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child Neurology Society. Parctice parameter: evaluation of the child with global developmental delay: report of the quality standards subcommittee of the child neurology society. Neurology. 2003;60(3):367-380.
Xu F, Li L, Schulz VP, et al. Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectural disabilities. Mol Cytogenet. 2014;7(1):4.
Nussbaum RL, McInnes RR, Willard HF, Hamosh A. Thompson & Thompson Genetics in Medicine, 7th edition. p76.
Li P, Zhang HZ, Huff S, et al. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet. 2006;140A(24):2721-2729.
Khattab M, Xu F, Li P, Bhandari V. A de novo 3.54 Mb deletion of 17q22-q23.1 associated with hydrocephalus: A case report and review of literature. Am J Med Genet. 2011;155A(12):3082-3086.
Rossi MR, DiMaio M, Xiang B, et al. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. Am J Med Genet. 2009;149A(12):2788-2794.
Cook S, Wilcox K, Grommisch B, Li P, Xu F. Prenatal diagnosis of Xq26.1-q26.3 duplication in two fetuses of a woman with gonadal mosaicism. N A J Med Sci. 2014;7(4):176-179.
Wei Y, Gao X, Yan L, Xu F, Li P, Zhao Y. Prenatal diagnosis and postnatal follow up of partial trisomy 13q and partial monosomy 10p: A case report and review of the literature. Case Rep Genet. 2012;821347.
Li P, Pomianowski P, DiMaio SM, et al. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am J Med Genet. 2011;155A(7):1605-1615.
Xu ZY, Geng Q, Luo FW, Xu F, Li P, Xie JS. Multiplex ligation- dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities. Mol Cytogenet. 2014;7(1):84.
Conlin LK, Kramer W, Hutchinson AL, et al. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. J Med Genet. 2011;48(1):1-9.
Zhang HZ, Xu F, Seashore M, Li P. Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases. Cytogenet Genome Res. 2012;136(3):180-187.
Xu F, DiAdamo AJ, Grommisch B, Li P. Interstitial duplication and distal deletion in a ring chromosome 13 with pulmonary atresia and ventricular septal defect: A case report and review of the literature. N A J Med Sci. 2013;6(4):208-212.
Tsuchiya KD, Opheim KE, Hannibal MC, et al. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Mol Cytogenet. 2008;1:7.
Kleefstra T, de Leeuw N, Wolf R, et al. Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. Am J Med Genet. 2010;152A(9):2221-2229.
Ballif BC, Rorem EA, Sundin K, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet. 2006;140A(24):2757-67.
Cheung SW, Shaw CA, Scott DA, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet. 2007;143A(15):1679-1686.
Higgins AW, Alkuraya FS, Bosco AF, et al. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008;82(3):712-722.
De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in ‘‘balanced’’ reciprocal and complex chromosome rearrangements: A study of 59 patients. J Med Genet. 2007;44(12):750–762.
Baptista J, Mercer C, Prigmore E, et al. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet. 2008;82(4):927–936.
Cacciagli P, Haddad MR, Mignon-Ravix C, et al. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eu J Hum Genet. 2010;18(12):1360-1363.
Brownstein CA, Adler F, Nelson-Williams C, et al. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci USA. 2008;105(9):3455-
3460.
Talkowski ME, Ernst C, Heilbut A, et al. Next-generation sequencing
strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011;88(4):469-481.
Koolen DA, Vissers LE, Pfundt R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999-1001.
Shaw-Smith C, Pittman AM, Willatt L, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006;38(9):1032-1037.
Kirchhoff M. Bisgaard A-M, Duno M, Hansen FJ, Schwartz MA.
17q21.31 microduplication, reciprocal to the newly described 17q21.31
microdeletion, in a girl with severe psychomotor developmental delay
and dysmorphic craniofacial features. Eu J Med Genet.
2007;50(4):256-63.
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838- 846.
Donnelly MP, Paschou P, Grigorenko E, et al. The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet. 2010;86(2):161-171.
Merla G, Brunetti-Pierri N, Micale, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 regions. Hum Genet. 2010;128(1):3-26.
Weiss LA, Shen Y, Korn JM, et al; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667-675.
Jacquemont S, Reymond A, Zufferey F, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011;478(7367):97-102.
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eu J Hum Genet. 2010;18(1):8–14.
Papenhausen P, Schwartz S, Risheg H, et al. UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet. 2011;155A(4):757-768.
Kaminsky EB, Kaul V, Paschall J, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011;13(9):777-784.
Darilek S, Ward P, Pursley A, et al. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008;10(1):13-18.
Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing influences medical management. Genet Med. 2011;13(9):770-776.
Cubells JF, Deoreo EH, Harvey PD, et al. Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am J Med Genet. 2011;155A(4):805-810.
Brand H, Collins RL, Hanscom C, et al. Paired-duplication signatures mark cryptic inversions and other complex structural variation. Am J Hum Genet. 2015;97(1):170-176.
Suzuki T, Tsurusaki Y, Nakashima M, et al. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. J Hum Genet. 2014;59(12):649-654
Downloads
Published
2016-01-15
How to Cite
Li, P., Xu, F., & Shu, W. (2016). The Spectrum of Cytogenomic Abnormalities in Patients with Developmental Delay and Intellectual Disabilities. North American Journal of Medicine and Science, 8(4). Retrieved from https://najms.com/index.php/najms/article/view/78
Issue
Section
Review
