Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homo...

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Published inMolecular cytogenetics Vol. 8; no. 1; p. 26
Main Authors Choucair, Nancy, Ghoch, Joelle Abou, Corbani, Sandra, Cacciagli, Pierre, Mignon-Ravix, Cecile, Salem, Nabiha, Jalkh, Nadine, El Sabbagh, Sandra, Fawaz, Ali, Ibrahim, Tony, Villard, Laurent, Mégarbané, André, Chouery, Eliane
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Published England BioMed Central Ltd 09.04.2015
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Abstract Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs.
AbstractList Background: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. Results: We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. Conclusion: This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs.
BACKGROUNDChromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. RESULTSWe screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. CONCLUSIONThis study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs.
Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs.
Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs.
Background Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. Results We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. Conclusion This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs. Keywords: Affymetrix 2.7 M, Affymetrix 6.0, Consanguinity, Copy number variants, Database, Intellectual disability, Lebanese population
ArticleNumber 26
Audience Academic
Author Chouery, Eliane
Choucair, Nancy
Fawaz, Ali
Corbani, Sandra
Ibrahim, Tony
Ghoch, Joelle Abou
Salem, Nabiha
Jalkh, Nadine
Mignon-Ravix, Cecile
El Sabbagh, Sandra
Cacciagli, Pierre
Villard, Laurent
Mégarbané, André
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  organization: Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon ; Faculté de Médecine de la Timone, Aix-Marseille Université, Marseille, France ; Institut National de la Santé et de la Recherche Médicale, UMR_S910, Marseille, France
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  organization: Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  givenname: Nabiha
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  organization: Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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  organization: Neuropediatrics Department, Lebanese University, Beirut, Lebanon
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  surname: Ibrahim
  fullname: Ibrahim, Tony
  organization: Département de Médecine interne, Hotel Dieu de France Hospital, Beirut, Lebanon
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  givenname: Laurent
  surname: Villard
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  givenname: André
  surname: Mégarbané
  fullname: Mégarbané, André
  organization: Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon ; Institut Jérôme Lejeune, Paris, France ; Université Saint-Joseph, rue de Damas B.P. 17-5208 Mar Mikhael, Beyrouth, 11042020 Lebanon
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  givenname: Eliane
  surname: Chouery
  fullname: Chouery, Eliane
  organization: Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
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CitedBy_id crossref_primary_10_1016_j_gene_2017_05_032
crossref_primary_10_1002_ajmg_a_63350
crossref_primary_10_1186_s12920_019_0496_5
crossref_primary_10_1186_s13039_015_0202_z
Cites_doi 10.1111/j.1399-0004.2012.01860.x
10.1016/j.ejmg.2009.09.002
10.1016/j.ejmg.2010.04.001
10.1186/2040-2392-2-17
10.1136/jmg.30.10.828
10.1136/jmg.24.2.88
10.1186/1750-1172-8-3
10.1002/ajmg.a.32204
10.1038/gim.2014.178
10.1007/BF00291426
10.1002/ajmg.a.31479
10.1007/s00439-011-1073-y
10.1002/ajmg.a.35770
10.1186/1755-8166-6-38
10.1002/ajmg.a.31416
10.1016/j.ejmg.2010.07.009
10.1534/genetics.166.2.835
10.1016/j.pedn.2008.11.001
10.1038/gim.2012.169
10.1002/humu.21015
10.1002/ajmg.a.32705
10.1038/ejhg.2014.246
10.1016/j.gene.2013.02.043
10.1038/jhg.2012.77
10.1136/jmg.2007.055830
10.1042/BJ20031241
10.1002/ajmg.1320430311
10.1016/j.ajhg.2010.04.006
10.1016/j.ridd.2011.07.005
10.1002/ajmg.a.20220
10.1136/jmg.26.1.58
10.1159/000346473
10.1002/ajmg.a.31611
10.1111/j.1399-0004.2008.01115.x
10.1111/j.1469-8749.1997.tb07395.x
10.1016/j.arcped.2011.11.014
10.1016/j.pedneo.2012.10.010
10.1159/000132745
10.1002/ajmg.a.32316
10.1055/s-0031-1293512
10.1111/j.1399-0004.2012.01850.x
10.1038/sj.mp.4001051
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Issue 1
Keywords Intellectual disability
Affymetrix 6.0
Database
Consanguinity
Affymetrix 2.7 M
Lebanese population
Copy number variants
DE-NOVO
MENTAL-RETARDATION
Affymetrix 27 M
CRITICAL REGIONS
CANDIDATE GENES
PHENOTYPE
Affymetrix 60
INTERSTITIAL DELETION
LONG ARM
ARRAY-CGH
CORPUS-CALLOSUM
DELAY
Language English
License Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0
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References 23294540 - Orphanet J Rare Dis. 2013 Jan 07;8:3
12140777 - Mol Psychiatry. 2002;7(6):542-59
23328890 - Genet Med. 2013 Feb;15(2):150-2
18178631 - J Med Genet. 2008 Jun;45(6):346-54
19558528 - Clin Genet. 2009 Jul;76(1):54-62
2918528 - J Med Genet. 1989 Jan;26(1):58-60
20466091 - Am J Hum Genet. 2010 May 14;86(5):749-64
25424710 - Eur J Hum Genet. 2015 Oct;23 (10 ):1364-9
22245660 - Arch Pediatr. 2012 Feb;19(2):194-207
8230159 - J Med Genet. 1993 Oct;30(10):828-32
19367186 - Genet Med. 2009 Mar;11(3):139-46
15020472 - Genetics. 2004 Feb;166(2):835-81
16917849 - Am J Med Genet A. 2006 Oct 1;140(19):2063-74
23494950 - Am J Med Genet A. 2013 Apr;161A(4):910-2
20117676 - J Pediatr Nurs. 2010 Feb;25(1):46-56
24053112 - Mol Cytogenet. 2013 Sep 20;6(1):38
3560173 - J Med Genet. 1987 Feb;24(2):88-92
23524024 - Gene. 2013 May 25;521(1):82-6
22283495 - Clin Genet. 2013 Jan;83(1):53-65
23653585 - Mol Syndromol. 2013 Mar;4(3):136-42
22017886 - Mol Autism. 2011 Oct 21;2(1):17
22369279 - Clin Genet. 2013 Feb;83(2):145-54
19765681 - Eur J Med Genet. 2009 Nov-Dec;52(6):398-403
14598339 - Am J Med Genet A. 2003 Dec 1;123A(2):153-63
17304549 - Am J Med Genet A. 2007 Mar 15;143A(6):599-603
21798712 - Res Dev Disabil. 2011 Nov-Dec;32(6):2164-82
953213 - Birth Defects Orig Artic Ser. 1976;12(5):131-6
18661548 - Am J Med Genet A. 2008 Sep 1;146A(17):2293-7
1746889 - Ann Genet. 1991;34(2):85-9
19388127 - Hum Mutat. 2009 Jul;30(7):1082-92
9062428 - Dev Med Child Neurol. 1997 Feb;39(2):125-32
22718018 - J Hum Genet. 2012 Sep;57(9):593-600
1605249 - Am J Med Genet. 1992 Jun 1;43(3):561-4
2789125 - Cytogenet Cell Genet. 1989;50(2-3):145-8
18470894 - Am J Med Genet A. 2008 Jun 15;146A(12):1575-80
23705098 - AJP Rep. 2011 Dec;1(2):111-4
21800092 - Hum Genet. 2012 Jan;131(1):145-56
25503493 - Genet Med. 2015 Sep;17(9):747-52
19253379 - Am J Med Genet A. 2009 Feb 15;149A(4):669-80
20670697 - Eur J Med Genet. 2010 Sep-Oct;53(5):337-9
14531729 - Biochem J. 2003 Dec 15;376(Pt 3):595-605
23590959 - Pediatr Neonatol. 2013 Apr;54(2):132-6
17022082 - Am J Med Genet A. 2006 Nov 1;140(21):2349-54
2891604 - Hum Genet. 1987 Dec;77(4):352-8
20382278 - Eur J Med Genet. 2010 Jul-Aug;53(4):179-85
N Roeleveld (130_CR3) 1997; 39
CB Mankinen (130_CR18) 1976; 12
M Fujiwara (130_CR33) 1992; 43
E Chouery (130_CR12) 2013; 4
A Verloes (130_CR9) 2012; 19
BC Ballif (130_CR22) 2012; 131
M Irving (130_CR30) 2003; 123A
R Chitkara (130_CR29) 2011; 1
GS Sagoo (130_CR7) 2009; 11
Y Qiao (130_CR13) 2013; 83
ND Miller (130_CR28) 2009; 149A
T Yamamoto (130_CR40) 2008; 146A
DJ McMullan (130_CR16) 2009; 30
RE Straub (130_CR47) 2002; 7
K Shimojima (130_CR23) 2012; 57
J Carayol (130_CR20) 2011; 2
BWM Van Bon (130_CR24) 2008; 45
E Natt (130_CR36) 1989; 50
130_CR1
Y-S Fan (130_CR43) 2013; 6
130_CR14
130_CR2
JK Inlow (130_CR8) 2004; 166
Y-T Chang (130_CR31) 2013; 54
DF Callen (130_CR38) 1993; 30
A Cooke (130_CR35) 1987; 24
M Poot (130_CR25) 2013; 161A
S Edelhoff (130_CR37) 1991; 34
SA Yatsenko (130_CR26) 2009; 76
DE Rooney (130_CR32) 1989; 26
V Mardo (130_CR27) 2008; 146A
DT Miller (130_CR10) 2010; 86
L Rodríguez-Revenga (130_CR11) 2013; 521
Z Stark (130_CR41) 2010; 53
A Khan (130_CR39) 2006; 140
K Buysse (130_CR48) 2009; 52
M Shoukier (130_CR15) 2013; 83
JL Merritt 2nd (130_CR17) 2007; 143
E Natt (130_CR34) 1987; 77
A Caliebe (130_CR19) 2010; 53
K Scior (130_CR5) 2011; 32
AM Haqq (130_CR42) 2003; 376
130_CR44
A Rauch (130_CR4) 2006; 140
130_CR45
M Azar (130_CR6) 2010; 25
T Barøy (130_CR21) 2013; 8
C Rehder (130_CR46) 2013; 15
References_xml – volume: 83
  start-page: 145
  year: 2013
  ident: 130_CR13
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.2012.01860.x
  contributor:
    fullname: Y Qiao
– volume: 52
  start-page: 398
  year: 2009
  ident: 130_CR48
  publication-title: Eur J Med Genet
  doi: 10.1016/j.ejmg.2009.09.002
  contributor:
    fullname: K Buysse
– volume: 53
  start-page: 179
  year: 2010
  ident: 130_CR19
  publication-title: Eur J Med Genet
  doi: 10.1016/j.ejmg.2010.04.001
  contributor:
    fullname: A Caliebe
– volume: 2
  start-page: 17
  year: 2011
  ident: 130_CR20
  publication-title: Mol Autism
  doi: 10.1186/2040-2392-2-17
  contributor:
    fullname: J Carayol
– volume: 30
  start-page: 828
  year: 1993
  ident: 130_CR38
  publication-title: J Med Genet
  doi: 10.1136/jmg.30.10.828
  contributor:
    fullname: DF Callen
– volume: 24
  start-page: 88
  year: 1987
  ident: 130_CR35
  publication-title: J Med Genet
  doi: 10.1136/jmg.24.2.88
  contributor:
    fullname: A Cooke
– volume: 8
  start-page: 3
  year: 2013
  ident: 130_CR21
  publication-title: Orphanet J Rare Dis
  doi: 10.1186/1750-1172-8-3
  contributor:
    fullname: T Barøy
– volume: 146A
  start-page: 1575
  year: 2008
  ident: 130_CR40
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.32204
  contributor:
    fullname: T Yamamoto
– ident: 130_CR1
– ident: 130_CR14
  doi: 10.1038/gim.2014.178
– volume: 34
  start-page: 85
  year: 1991
  ident: 130_CR37
  publication-title: Ann Génétique
  contributor:
    fullname: S Edelhoff
– volume: 77
  start-page: 352
  year: 1987
  ident: 130_CR34
  publication-title: Hum Genet
  doi: 10.1007/BF00291426
  contributor:
    fullname: E Natt
– volume: 140
  start-page: 2349
  year: 2006
  ident: 130_CR39
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.31479
  contributor:
    fullname: A Khan
– volume: 131
  start-page: 145
  year: 2012
  ident: 130_CR22
  publication-title: Hum Genet
  doi: 10.1007/s00439-011-1073-y
  contributor:
    fullname: BC Ballif
– volume: 161A
  start-page: 910
  year: 2013
  ident: 130_CR25
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.35770
  contributor:
    fullname: M Poot
– volume: 6
  start-page: 38
  year: 2013
  ident: 130_CR43
  publication-title: Mol Cytogenet
  doi: 10.1186/1755-8166-6-38
  contributor:
    fullname: Y-S Fan
– volume: 140
  start-page: 2063
  year: 2006
  ident: 130_CR4
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.31416
  contributor:
    fullname: A Rauch
– volume: 53
  start-page: 337
  year: 2010
  ident: 130_CR41
  publication-title: Eur J Med Genet
  doi: 10.1016/j.ejmg.2010.07.009
  contributor:
    fullname: Z Stark
– volume: 166
  start-page: 835
  year: 2004
  ident: 130_CR8
  publication-title: Genetics
  doi: 10.1534/genetics.166.2.835
  contributor:
    fullname: JK Inlow
– volume: 25
  start-page: 46
  year: 2010
  ident: 130_CR6
  publication-title: J Pediatr Nurs
  doi: 10.1016/j.pedn.2008.11.001
  contributor:
    fullname: M Azar
– volume: 15
  start-page: 150
  year: 2013
  ident: 130_CR46
  publication-title: Genetics in medicine
  doi: 10.1038/gim.2012.169
  contributor:
    fullname: C Rehder
– volume: 30
  start-page: 1082
  year: 2009
  ident: 130_CR16
  publication-title: Hum Mutat
  doi: 10.1002/humu.21015
  contributor:
    fullname: DJ McMullan
– volume: 149A
  start-page: 669
  year: 2009
  ident: 130_CR28
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.32705
  contributor:
    fullname: ND Miller
– ident: 130_CR44
  doi: 10.1038/ejhg.2014.246
– volume: 521
  start-page: 82
  year: 2013
  ident: 130_CR11
  publication-title: Gene
  doi: 10.1016/j.gene.2013.02.043
  contributor:
    fullname: L Rodríguez-Revenga
– volume: 57
  start-page: 593
  year: 2012
  ident: 130_CR23
  publication-title: J Hum Genet
  doi: 10.1038/jhg.2012.77
  contributor:
    fullname: K Shimojima
– volume: 45
  start-page: 346
  year: 2008
  ident: 130_CR24
  publication-title: J Med Genet
  doi: 10.1136/jmg.2007.055830
  contributor:
    fullname: BWM Van Bon
– volume: 376
  start-page: 595
  issue: Pt 3
  year: 2003
  ident: 130_CR42
  publication-title: Biochem J
  doi: 10.1042/BJ20031241
  contributor:
    fullname: AM Haqq
– volume: 43
  start-page: 561
  year: 1992
  ident: 130_CR33
  publication-title: Am J Med Genet
  doi: 10.1002/ajmg.1320430311
  contributor:
    fullname: M Fujiwara
– volume: 86
  start-page: 749
  year: 2010
  ident: 130_CR10
  publication-title: Am J Hum Genet
  doi: 10.1016/j.ajhg.2010.04.006
  contributor:
    fullname: DT Miller
– volume: 32
  start-page: 2164
  year: 2011
  ident: 130_CR5
  publication-title: Res Dev Disabil
  doi: 10.1016/j.ridd.2011.07.005
  contributor:
    fullname: K Scior
– volume: 11
  start-page: 139
  year: 2009
  ident: 130_CR7
  publication-title: Genet Med Off J Am Coll Med Genet
  contributor:
    fullname: GS Sagoo
– volume: 123A
  start-page: 153
  year: 2003
  ident: 130_CR30
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.20220
  contributor:
    fullname: M Irving
– volume: 26
  start-page: 58
  year: 1989
  ident: 130_CR32
  publication-title: J Med Genet
  doi: 10.1136/jmg.26.1.58
  contributor:
    fullname: DE Rooney
– volume: 4
  start-page: 136
  year: 2013
  ident: 130_CR12
  publication-title: Mol Syndromol
  doi: 10.1159/000346473
  contributor:
    fullname: E Chouery
– volume: 143
  start-page: 599
  year: 2007
  ident: 130_CR17
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.31611
  contributor:
    fullname: JL Merritt 2nd
– ident: 130_CR2
– volume: 76
  start-page: 54
  year: 2009
  ident: 130_CR26
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.2008.01115.x
  contributor:
    fullname: SA Yatsenko
– volume: 39
  start-page: 125
  year: 1997
  ident: 130_CR3
  publication-title: Dev Med Child Neurol
  doi: 10.1111/j.1469-8749.1997.tb07395.x
  contributor:
    fullname: N Roeleveld
– volume: 12
  start-page: 131
  year: 1976
  ident: 130_CR18
  publication-title: Birth Defects Orig Artic Ser
  contributor:
    fullname: CB Mankinen
– volume: 19
  start-page: 194
  year: 2012
  ident: 130_CR9
  publication-title: Arch Pédiatrie
  doi: 10.1016/j.arcped.2011.11.014
  contributor:
    fullname: A Verloes
– volume: 54
  start-page: 132
  year: 2013
  ident: 130_CR31
  publication-title: Pediatr Neonatol
  doi: 10.1016/j.pedneo.2012.10.010
  contributor:
    fullname: Y-T Chang
– volume: 50
  start-page: 145
  year: 1989
  ident: 130_CR36
  publication-title: Cytogenet Cell Genet
  doi: 10.1159/000132745
  contributor:
    fullname: E Natt
– ident: 130_CR45
– volume: 146A
  start-page: 2293
  year: 2008
  ident: 130_CR27
  publication-title: Am J Med Genet A
  doi: 10.1002/ajmg.a.32316
  contributor:
    fullname: V Mardo
– volume: 1
  start-page: 111
  year: 2011
  ident: 130_CR29
  publication-title: Am J Perinatol Rep
  doi: 10.1055/s-0031-1293512
  contributor:
    fullname: R Chitkara
– volume: 83
  start-page: 53
  year: 2013
  ident: 130_CR15
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.2012.01850.x
  contributor:
    fullname: M Shoukier
– volume: 7
  start-page: 542
  year: 2002
  ident: 130_CR47
  publication-title: Mol Psychiatry
  doi: 10.1038/sj.mp.4001051
  contributor:
    fullname: RE Straub
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Snippet Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID),...
Background Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID),...
BACKGROUNDChromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID),...
Background: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability...
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StartPage 26
SubjectTerms Biotechnology industry
Chromosomes
DNA microarrays
Genetic aspects
Genetic disorders
Human health and pathology
Life Sciences
Parenting
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Title Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
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