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Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

BMC women's health, 2024-04, Vol.24 (1), p.241-241, Article 241

2024

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Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Human mutation, 2019-02, Vol.40 (2), p.193-200

2019

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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1025-1032

2015

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Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature

European journal of medical genetics, 2021-11, Vol.64 (11), p.104318-104318, Article 104318

2021

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Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

The journal of obstetrics and gynaecology research, 2010-04, Vol.36 (2), p.435-440

2010

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The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis

Fetal diagnosis and therapy, 2023-12, Vol.50 (6), p.397-405

2023

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Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review

Archives of gynecology and obstetrics, 2011-11, Vol.284 (5), p.1137-1151

2011

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Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases

Prenatal diagnosis, 2015-12, Vol.35 (13), p.1269-1277

2015

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Non‐invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study

Prenatal diagnosis, 2017-06, Vol.37 (6), p.583-592

2017

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A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia

Journal of diabetes, 2021-08, Vol.13 (8), p.688-692

2021

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Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities

The journal of maternal-fetal & neonatal medicine, 2012-12, Vol.25 (12), p.2546-2550

2012

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Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

Cytogenetic and genome research, 2015-01, Vol.145 (1), p.19-24

2015

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Sonographic antenatal diagnosis of congenital dacryocystoceles

Journal of clinical ultrasound, 2012-07, Vol.40 (6), p.375-377

2012

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Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature

Birth defects research. A Clinical and molecular teratology, 2014-04, Vol.100 (4), p.284-293

2014

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Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications

Prenatal diagnosis, 2012-07, Vol.32 (7), p.680-685

2012

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Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties

Cytogenetic and genome research, 2015-01, Vol.147 (2-3), p.118-123

2015

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Recipient CTLA-4CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia

Human immunology, 2012-03, Vol.73 (3), p.282-286

2012

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Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Molecular medicine reports, 2014-01, Vol.9 (1), p.163-165

2014

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Unexpected results in the constitution of small supernumerary marker chromosomes

European journal of medical genetics, 2012-03, Vol.55 (3), p.185-190

2012

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Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

Prenatal diagnosis, 2009-09, Vol.29 (9), p.884-888

2009

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Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2681-2687

2011

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A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

Prenatal diagnosis, 2010-06, Vol.30 (6), p.586-588

2010

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Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1476-1482

2011

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Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening

Prenatal diagnosis, 2008-06, Vol.28 (6), p.556-558

2008

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Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature

Clinical dysmorphology, 2012-04, Vol.21 (2), p.101-105

2012

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Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature

The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis

Uterine arteriovenous malformations induced after diagnostic curettage: a systematic review

Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases

Non‐invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study

A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia

Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities

Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

Sonographic antenatal diagnosis of congenital dacryocystoceles

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literature

Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications

Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties

Recipient CTLA-4CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Unexpected results in the constitution of small supernumerary marker chromosomes

Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening

Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature

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