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Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome

Epileptic disorders, 2022-06, Vol.24 (3), p.577-582

2022

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Short report: Twins with 20p13 duplication. Case report and comprehensive literature review

Molecular genetics & genomic medicine, 2024-05, Vol.12 (5), p.e2436-n/a

2024

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Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association

International journal of women's health, 2020-08, Vol.12, p.675-679

2020

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De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

Gene, 2013-07, Vol.524 (2), p.368-372

2013

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Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1582-1586

2015

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Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.535-541

2014

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

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2754-2761

2011

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Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.437-445

2009

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A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion

Annals of Laboratory Medicine, 2012, 32(1), , pp.91-94

2012

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De novo trisomy 20p of paternal origin

American journal of medical genetics. Part A, 2007-05, Vol.143A (10), p.1100-1103

2007

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Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.288-293

2005

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Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

Prenatal diagnosis, 2006-03, Vol.26 (3), p.239-241

2006

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Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat

American journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.292-295

2004

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Distal monosomy 18p/distal trisomy 20p-A recognizable facial phenotype?

American journal of medical genetics, 2003-07, Vol.120A (3), p.429-433

2003

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Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20

Congenital anomalies, 2005-12, Vol.45 (4), p.161-164

2005

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De novo trisomy 20p of paternal origin

American Journal of Medical Genetics Part A, 2007, Vol.143A (10), p.1100-1103

2007

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Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

Clinical genetics, 1996-01, Vol.49 (1), p.49-53

1996

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

American Journal of Medical Genetics Part A, 2011, Vol.155A (11), p.2754-2761

2011

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Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model

American Journal of Medical Genetics Part A, 2009, Vol.149A (3), p.437-445

2009

Volltextzugriff (PDF)

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

American Journal of Medical Genetics Part A, 2005, Vol.138A (3), p.288-293

2005

Volltextzugriff (PDF)

Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat

American Journal of Medical Genetics Part A, 2004, Vol.124A (3), p.292-295

2004

Volltextzugriff (PDF)

Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20

Congenital Anomalies, 2005, Vol.45 (4), p.161-164

2005

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Trisomy 20p resulting from inverted duplication and neocentromere formation

American journal of medical genetics, 1999-08, Vol.85 (4), p.403-408

1999

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Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

Clinical Genetics, 1996, Vol.49 (1), p.49-53

1996

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Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

American journal of medical genetics, 2000-04, Vol.91 (4), p.273-276

2000

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Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome

Short report: Twins with 20p13 duplication. Case report and comprehensive literature review

Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association

De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures

Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications

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

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U‐type exchange model

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion

De novo trisomy 20p of paternal origin

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat

Distal monosomy 18p/distal trisomy 20p-A recognizable facial phenotype?

Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20

De novo trisomy 20p of paternal origin

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

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

Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat

Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20

Trisomy 20p resulting from inverted duplication and neocentromere formation

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

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