Perlman Syndrome with Deletion of DIS3L2 Gene
Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corpora...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Salameh K [verfasserIn] Viswanathan B [verfasserIn] Nawaz Z [verfasserIn] Habboub L [verfasserIn] Tomerak A [verfasserIn] Pattuvalappil R [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020 |
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| Übergeordnetes Werk: |
In: Research and Reports in Neonatology - Dove Medical Press, 2011, (2020), Seite 89-93 |
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| Übergeordnetes Werk: |
year:2020 ; pages:89-93 |
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| 520 | |a Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour | ||
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(DE-627)DOAJ065495594 (DE-599)DOAJ0dbc4dbc4b7e4d0eb758d38c00b6044c DE-627 ger DE-627 rakwb eng RJ1-570 Salameh K verfasserin aut Perlman Syndrome with Deletion of DIS3L2 Gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour dis3l2 perlman syndrome prune belly syndrome wilm’s tumour Pediatrics Viswanathan B verfasserin aut Nawaz Z verfasserin aut Habboub L verfasserin aut Tomerak A verfasserin aut Pattuvalappil R verfasserin aut In Research and Reports in Neonatology Dove Medical Press, 2011 (2020), Seite 89-93 (DE-627)663847745 (DE-600)2616893-5 11799935 nnns year:2020 pages:89-93 https://doaj.org/article/0dbc4dbc4b7e4d0eb758d38c00b6044c kostenfrei https://www.dovepress.com/perlman-syndrome-with-deletion-of-dis3l2-gene-peer-reviewed-article-RRN kostenfrei https://doaj.org/toc/1179-9935 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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_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 2020 89-93 |
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(DE-627)DOAJ065495594 (DE-599)DOAJ0dbc4dbc4b7e4d0eb758d38c00b6044c DE-627 ger DE-627 rakwb eng RJ1-570 Salameh K verfasserin aut Perlman Syndrome with Deletion of DIS3L2 Gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour dis3l2 perlman syndrome prune belly syndrome wilm’s tumour Pediatrics Viswanathan B verfasserin aut Nawaz Z verfasserin aut Habboub L verfasserin aut Tomerak A verfasserin aut Pattuvalappil R verfasserin aut In Research and Reports in Neonatology Dove Medical Press, 2011 (2020), Seite 89-93 (DE-627)663847745 (DE-600)2616893-5 11799935 nnns year:2020 pages:89-93 https://doaj.org/article/0dbc4dbc4b7e4d0eb758d38c00b6044c kostenfrei https://www.dovepress.com/perlman-syndrome-with-deletion-of-dis3l2-gene-peer-reviewed-article-RRN kostenfrei https://doaj.org/toc/1179-9935 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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_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 2020 89-93 |
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(DE-627)DOAJ065495594 (DE-599)DOAJ0dbc4dbc4b7e4d0eb758d38c00b6044c DE-627 ger DE-627 rakwb eng RJ1-570 Salameh K verfasserin aut Perlman Syndrome with Deletion of DIS3L2 Gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour dis3l2 perlman syndrome prune belly syndrome wilm’s tumour Pediatrics Viswanathan B verfasserin aut Nawaz Z verfasserin aut Habboub L verfasserin aut Tomerak A verfasserin aut Pattuvalappil R verfasserin aut In Research and Reports in Neonatology Dove Medical Press, 2011 (2020), Seite 89-93 (DE-627)663847745 (DE-600)2616893-5 11799935 nnns year:2020 pages:89-93 https://doaj.org/article/0dbc4dbc4b7e4d0eb758d38c00b6044c kostenfrei https://www.dovepress.com/perlman-syndrome-with-deletion-of-dis3l2-gene-peer-reviewed-article-RRN kostenfrei https://doaj.org/toc/1179-9935 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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_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 2020 89-93 |
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(DE-627)DOAJ065495594 (DE-599)DOAJ0dbc4dbc4b7e4d0eb758d38c00b6044c DE-627 ger DE-627 rakwb eng RJ1-570 Salameh K verfasserin aut Perlman Syndrome with Deletion of DIS3L2 Gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour dis3l2 perlman syndrome prune belly syndrome wilm’s tumour Pediatrics Viswanathan B verfasserin aut Nawaz Z verfasserin aut Habboub L verfasserin aut Tomerak A verfasserin aut Pattuvalappil R verfasserin aut In Research and Reports in Neonatology Dove Medical Press, 2011 (2020), Seite 89-93 (DE-627)663847745 (DE-600)2616893-5 11799935 nnns year:2020 pages:89-93 https://doaj.org/article/0dbc4dbc4b7e4d0eb758d38c00b6044c kostenfrei https://www.dovepress.com/perlman-syndrome-with-deletion-of-dis3l2-gene-peer-reviewed-article-RRN kostenfrei https://doaj.org/toc/1179-9935 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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_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 2020 89-93 |
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(DE-627)DOAJ065495594 (DE-599)DOAJ0dbc4dbc4b7e4d0eb758d38c00b6044c DE-627 ger DE-627 rakwb eng RJ1-570 Salameh K verfasserin aut Perlman Syndrome with Deletion of DIS3L2 Gene 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour dis3l2 perlman syndrome prune belly syndrome wilm’s tumour Pediatrics Viswanathan B verfasserin aut Nawaz Z verfasserin aut Habboub L verfasserin aut Tomerak A verfasserin aut Pattuvalappil R verfasserin aut In Research and Reports in Neonatology Dove Medical Press, 2011 (2020), Seite 89-93 (DE-627)663847745 (DE-600)2616893-5 11799935 nnns year:2020 pages:89-93 https://doaj.org/article/0dbc4dbc4b7e4d0eb758d38c00b6044c kostenfrei https://www.dovepress.com/perlman-syndrome-with-deletion-of-dis3l2-gene-peer-reviewed-article-RRN kostenfrei https://doaj.org/toc/1179-9935 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA 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_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 2020 89-93 |
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Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour |
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Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour |
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Khalil Salameh,1 Brijroy Viswanathan,1 Zafar Nawaz,2 Lina Habboub,1 Ahmed Tomerak,1 Rajesh Pattuvalappil1 1Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar; 2Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, QatarCorrespondence: Khalil SalamehDepartment of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarTel +974 40114258Email Ksalamehhamad.qaAbstract: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm’s tumour |
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It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith&ndash;Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson&ndash;Golabi&ndash;Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm&rsquo;s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).Keywords: DIS3L2, Perlman syndrome, prune belly syndrome, Wilm&rsquo;s tumour</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">dis3l2</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">perlman syndrome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">prune belly syndrome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">wilm’s tumour</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Pediatrics</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Viswanathan B</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nawaz Z</subfield><subfield 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