Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

De Falco, Luigia; Savarese, Giovanni; Suero, Teresa; Amabile, Sonia; Ruggiero, Raffaella; Savarese, Pasquale; Fico, Antonio

doi:10.1002/ccr3.2389

Title: Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Abstract

Abstract We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy.

Authors:

^[1]; Savarese, Giovanni ^[1]; Suero, Teresa ^[1]; Amabile, Sonia ^[2]; Ruggiero, Raffaella ^[1]; Savarese, Pasquale ^[1]; Fico, Antonio ^[1]

AMES, Centro Polidiagnostico Strumentale Srl Naples Italy
Department of Molecular Medicine and Medical Biotechnology University of Naples "Federico II" Naples Italy

Publication Date:: Sat Sep 07 00:00:00 EDT 2019

Sponsoring Org.:: USDOE

OSTI Identifier:: 1560738

Alternate Identifier(s):: OSTI ID: 1560739

Resource Type:: Published Article

Journal Name:: Clinical Case Reports

Additional Journal Information:: Journal Name: Clinical Case Reports Journal Volume: 7 Journal Issue: 10; Journal ID: ISSN 2050-0904

Publisher:: Wiley Blackwell (John Wiley & Sons)

Country of Publication:: Country unknown/Code not available

Language:: English

Citation Formats


                    De Falco, Luigia, Savarese, Giovanni, Suero, Teresa, Amabile, Sonia, Ruggiero, Raffaella, Savarese, Pasquale, and Fico, Antonio. Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing.  Country unknown/Code not available: N. p., 2019. 
Web.  doi:10.1002/ccr3.2389.

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                    De Falco, Luigia, Savarese, Giovanni, Suero, Teresa, Amabile, Sonia, Ruggiero, Raffaella, Savarese, Pasquale, & Fico, Antonio. Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing.  Country unknown/Code not available.  https://doi.org/10.1002/ccr3.2389

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                    De Falco, Luigia, Savarese, Giovanni, Suero, Teresa, Amabile, Sonia, Ruggiero, Raffaella, Savarese, Pasquale, and Fico, Antonio. Sat .  
"Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing".  Country unknown/Code not available.  https://doi.org/10.1002/ccr3.2389.

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@article{osti_1560738,

  title        = {Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing},

  author       = {De Falco, Luigia and Savarese, Giovanni and Suero, Teresa and Amabile, Sonia and Ruggiero, Raffaella and Savarese, Pasquale and Fico, Antonio},

  abstractNote = {Abstract We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation. With the increasing use of NIPT, more gender discordances can be identified prenatally and be amenable to early therapy.},

  doi          = {10.1002/ccr3.2389},

  journal      = {Clinical Case Reports},

  number       = 10,

  volume       = 7,

  place        = {Country unknown/Code not available},

  year         = {Sat Sep 07 00:00:00 EDT 2019},

  month        = {Sat Sep 07 00:00:00 EDT 2019}

}

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Works referenced in this record:

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Zenteno, Juan Carlos; López, Marisol; Vera, Clementina
Human Genetics, Vol. 100, Issue 5-6
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Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
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Chapelle, Albert; Hortling, Herman; Niemi, Mikko
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46,XX Male Disorder of Sexual Development: A Case Report
journal, January 2013

Ahmet, Anık; Gönül, Çatlı; Ayhan, Abacı
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McCullough, Ron M.; Almasri, Eyad A.; Guan, Xiaojun
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Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood
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Zhang, Bin; Lu, Bei-Yi; Yu, Bin
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Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
journal, September 2015

Mansfield, Nerida; Boogert, Tom; McLennan, Andrew
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Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation
journal, October 2009

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Prenatal Diagnosis, Vol. 29, Issue 10
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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
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46,XX Sex Reversal
journal, November 2001

Zenteno-Ruiz, Juan Carlos; Kofman-Alfaro, Susana; Méndez, Juan Pablo
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Similar Records

Title: Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Abstract

Citation Formats

Two SRY -negative XX male brothers without genital ambiguity journal, September 1997

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive journal, August 2014

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing journal, January 2012

Prenatal supernumeray r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome journal, July 1998

XX Sex Chromosomes in a Human Male: First Case journal, January 1964

46,XX Male Disorder of Sexual Development: A Case Report journal, January 2013

Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples journal, October 2014

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood journal, March 2017

Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing journal, September 2015

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation journal, October 2009

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis journal, September 2001

A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder journal, January 2011

46,XX Sex Reversal journal, November 2001

Fetal Sex Chromosome Testing by Maternal Plasma DNA Sequencing: Clinical Laboratory Experience and Biology journal, January 2015

Sequencing of Circulating Cell-free DNA during Pregnancy journal, August 2018

Prenatal diagnosis of 46, XX male fetus journal, May 2006

Sex discordance identification following non-invasive prenatal testing journal, December 2017

Two SRY -negative XX male brothers without genital ambiguity
journal, September 1997

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
journal, August 2014

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
journal, January 2012

Prenatal supernumeray r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome
journal, July 1998

XX Sex Chromosomes in a Human Male: First Case
journal, January 1964

46,XX Male Disorder of Sexual Development: A Case Report
journal, January 2013

Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples
journal, October 2014

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood
journal, March 2017

Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
journal, September 2015

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation
journal, October 2009

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
journal, September 2001

A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder
journal, January 2011

46,XX Sex Reversal
journal, November 2001

Fetal Sex Chromosome Testing by Maternal Plasma DNA Sequencing: Clinical Laboratory Experience and Biology
journal, January 2015

Sequencing of Circulating Cell-free DNA during Pregnancy
journal, August 2018

Prenatal diagnosis of 46, XX male fetus
journal, May 2006

Sex discordance identification following non-invasive prenatal testing
journal, December 2017