Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity

Distal 13q monosomy and neural tube defects.

Genetic counseling (Geneva, Switzerland)·2018

Ectrodactyly and tetralogy of Fallot in a fetus with del(6)(q21q23).

Genetic counseling (Geneva, Switzerland)·2014

De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.

Cytogenetic and genome research·2013

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

Advances in medical sciences·2009

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Journal of medical genetics·2008

Maternal transmission of a ring chromosome 15.

Genetic counseling (Geneva, Switzerland)·2003

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Clinical genetics·2026

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Clinical genetics·2026

Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

Clinical genetics·2026

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Clinical genetics·2026

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Clinical genetics·2026

Irreconcilable differences?: epistemic injustice and the integration of mental healthcare for LGBTQ+ young people.

Frontiers in psychiatry·2026

BMI Levels Among Adolescents Aged 10-19 Years Attending Dubai Health Facilities in 2023.

Cureus·2026

Related Experiment Videos

Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity

Related Concept Videos

Distal 13q monosomy and neural tube defects.

Ectrodactyly and tetralogy of Fallot in a fetus with del(6)(q21q23).

De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Maternal transmission of a ring chromosome 15.

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Irreconcilable differences?: epistemic injustice and the integration of mental healthcare for LGBTQ+ young people.

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Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity

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