The clinical diagnostic utility of array CGH in children with syndromic microcephaly

Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55...
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Autor*in:	Manisha Goyal [verfasserIn] Mohammed Faruq [verfasserIn] Ashok Gupta [verfasserIn] Divya Shrivastava [verfasserIn] Uzma Shamim [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	array cgh chromosomal microdeletion copy number variations microcephaly microduplication

Übergeordnetes Werk:	In: Annals of Indian Academy of Neurology - Wolters Kluwer Medknow Publications, 2006, 25(2022), 6, Seite 1067-1074
Übergeordnetes Werk:	volume:25 ; year:2022 ; number:6 ; pages:1067-1074

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.4103/aian.aian_202_22

Katalog-ID:	DOAJ083343121

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520			\|a Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly.
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650		4	\|a microduplication
653		0	\|a Neurology. Diseases of the nervous system
700	0		\|a Mohammed Faruq \|e verfasserin \|4 aut
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allfields	10.4103/aian.aian_202_22 doi (DE-627)DOAJ083343121 (DE-599)DOAJ4b300eefcd384771aa0dd800dd34a84d DE-627 ger DE-627 rakwb eng RC346-429 Manisha Goyal verfasserin aut The clinical diagnostic utility of array CGH in children with syndromic microcephaly 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly. array cgh chromosomal microdeletion copy number variations microcephaly microduplication Neurology. Diseases of the nervous system Mohammed Faruq verfasserin aut Ashok Gupta verfasserin aut Divya Shrivastava verfasserin aut Uzma Shamim verfasserin aut In Annals of Indian Academy of Neurology Wolters Kluwer Medknow Publications, 2006 25(2022), 6, Seite 1067-1074 (DE-627)513880054 (DE-600)2240174-X 19983549 nnns volume:25 year:2022 number:6 pages:1067-1074 https://doi.org/10.4103/aian.aian_202_22 kostenfrei https://doaj.org/article/4b300eefcd384771aa0dd800dd34a84d kostenfrei http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1067;epage=1074;aulast=Goyal kostenfrei https://doaj.org/toc/0972-2327 Journal toc kostenfrei https://doaj.org/toc/1998-3549 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 25 2022 6 1067-1074
spelling	10.4103/aian.aian_202_22 doi (DE-627)DOAJ083343121 (DE-599)DOAJ4b300eefcd384771aa0dd800dd34a84d DE-627 ger DE-627 rakwb eng RC346-429 Manisha Goyal verfasserin aut The clinical diagnostic utility of array CGH in children with syndromic microcephaly 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly. array cgh chromosomal microdeletion copy number variations microcephaly microduplication Neurology. Diseases of the nervous system Mohammed Faruq verfasserin aut Ashok Gupta verfasserin aut Divya Shrivastava verfasserin aut Uzma Shamim verfasserin aut In Annals of Indian Academy of Neurology Wolters Kluwer Medknow Publications, 2006 25(2022), 6, Seite 1067-1074 (DE-627)513880054 (DE-600)2240174-X 19983549 nnns volume:25 year:2022 number:6 pages:1067-1074 https://doi.org/10.4103/aian.aian_202_22 kostenfrei https://doaj.org/article/4b300eefcd384771aa0dd800dd34a84d kostenfrei http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1067;epage=1074;aulast=Goyal kostenfrei https://doaj.org/toc/0972-2327 Journal toc kostenfrei https://doaj.org/toc/1998-3549 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 25 2022 6 1067-1074
allfields_unstemmed	10.4103/aian.aian_202_22 doi (DE-627)DOAJ083343121 (DE-599)DOAJ4b300eefcd384771aa0dd800dd34a84d DE-627 ger DE-627 rakwb eng RC346-429 Manisha Goyal verfasserin aut The clinical diagnostic utility of array CGH in children with syndromic microcephaly 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly. array cgh chromosomal microdeletion copy number variations microcephaly microduplication Neurology. Diseases of the nervous system Mohammed Faruq verfasserin aut Ashok Gupta verfasserin aut Divya Shrivastava verfasserin aut Uzma Shamim verfasserin aut In Annals of Indian Academy of Neurology Wolters Kluwer Medknow Publications, 2006 25(2022), 6, Seite 1067-1074 (DE-627)513880054 (DE-600)2240174-X 19983549 nnns volume:25 year:2022 number:6 pages:1067-1074 https://doi.org/10.4103/aian.aian_202_22 kostenfrei https://doaj.org/article/4b300eefcd384771aa0dd800dd34a84d kostenfrei http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1067;epage=1074;aulast=Goyal kostenfrei https://doaj.org/toc/0972-2327 Journal toc kostenfrei https://doaj.org/toc/1998-3549 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 25 2022 6 1067-1074
allfieldsGer	10.4103/aian.aian_202_22 doi (DE-627)DOAJ083343121 (DE-599)DOAJ4b300eefcd384771aa0dd800dd34a84d DE-627 ger DE-627 rakwb eng RC346-429 Manisha Goyal verfasserin aut The clinical diagnostic utility of array CGH in children with syndromic microcephaly 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly. array cgh chromosomal microdeletion copy number variations microcephaly microduplication Neurology. Diseases of the nervous system Mohammed Faruq verfasserin aut Ashok Gupta verfasserin aut Divya Shrivastava verfasserin aut Uzma Shamim verfasserin aut In Annals of Indian Academy of Neurology Wolters Kluwer Medknow Publications, 2006 25(2022), 6, Seite 1067-1074 (DE-627)513880054 (DE-600)2240174-X 19983549 nnns volume:25 year:2022 number:6 pages:1067-1074 https://doi.org/10.4103/aian.aian_202_22 kostenfrei https://doaj.org/article/4b300eefcd384771aa0dd800dd34a84d kostenfrei http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1067;epage=1074;aulast=Goyal kostenfrei https://doaj.org/toc/0972-2327 Journal toc kostenfrei https://doaj.org/toc/1998-3549 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 25 2022 6 1067-1074
allfieldsSound	10.4103/aian.aian_202_22 doi (DE-627)DOAJ083343121 (DE-599)DOAJ4b300eefcd384771aa0dd800dd34a84d DE-627 ger DE-627 rakwb eng RC346-429 Manisha Goyal verfasserin aut The clinical diagnostic utility of array CGH in children with syndromic microcephaly 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly. array cgh chromosomal microdeletion copy number variations microcephaly microduplication Neurology. Diseases of the nervous system Mohammed Faruq verfasserin aut Ashok Gupta verfasserin aut Divya Shrivastava verfasserin aut Uzma Shamim verfasserin aut In Annals of Indian Academy of Neurology Wolters Kluwer Medknow Publications, 2006 25(2022), 6, Seite 1067-1074 (DE-627)513880054 (DE-600)2240174-X 19983549 nnns volume:25 year:2022 number:6 pages:1067-1074 https://doi.org/10.4103/aian.aian_202_22 kostenfrei https://doaj.org/article/4b300eefcd384771aa0dd800dd34a84d kostenfrei http://www.annalsofian.org/article.asp?issn=0972-2327;year=2022;volume=25;issue=6;spage=1067;epage=1074;aulast=Goyal kostenfrei https://doaj.org/toc/0972-2327 Journal toc kostenfrei https://doaj.org/toc/1998-3549 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 25 2022 6 1067-1074
language	English
source	In Annals of Indian Academy of Neurology 25(2022), 6, Seite 1067-1074 volume:25 year:2022 number:6 pages:1067-1074
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topic_facet	array cgh chromosomal microdeletion copy number variations microcephaly microduplication Neurology. Diseases of the nervous system
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authorswithroles_txt_mv	Manisha Goyal @@aut@@ Mohammed Faruq @@aut@@ Ashok Gupta @@aut@@ Divya Shrivastava @@aut@@ Uzma Shamim @@aut@@
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issn	19983549
topic_title	RC346-429 The clinical diagnostic utility of array CGH in children with syndromic microcephaly array cgh chromosomal microdeletion copy number variations microcephaly microduplication
topic	misc RC346-429 misc array cgh misc chromosomal microdeletion misc copy number variations misc microcephaly misc microduplication misc Neurology. Diseases of the nervous system
topic_unstemmed	misc RC346-429 misc array cgh misc chromosomal microdeletion misc copy number variations misc microcephaly misc microduplication misc Neurology. Diseases of the nervous system
topic_browse	misc RC346-429 misc array cgh misc chromosomal microdeletion misc copy number variations misc microcephaly misc microduplication misc Neurology. Diseases of the nervous system
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title	The clinical diagnostic utility of array CGH in children with syndromic microcephaly
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title_full	The clinical diagnostic utility of array CGH in children with syndromic microcephaly
author_sort	Manisha Goyal
journal	Annals of Indian Academy of Neurology
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author_browse	Manisha Goyal Mohammed Faruq Ashok Gupta Divya Shrivastava Uzma Shamim
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format_se	Elektronische Aufsätze
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doi_str_mv	10.4103/aian.aian_202_22
author2-role	verfasserin
title_sort	clinical diagnostic utility of array cgh in children with syndromic microcephaly
callnumber	RC346-429
title_auth	The clinical diagnostic utility of array CGH in children with syndromic microcephaly
abstract	Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly.
abstractGer	Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly.
abstract_unstemmed	Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included. Exclusion Criteria: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs). Results: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology. Conclusion: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly.
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title_short	The clinical diagnostic utility of array CGH in children with syndromic microcephaly
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