Category: Genetic

October 31, 2020

The Genetics Corner: Hypophosphatasia
October 31, 2020

Case Report: Extremely Premature Infant without Spontaneous Movements Born to a Mother following COVID-19 Infection
September 30, 2020

The Genetics Corner: DiGeorge Anomaly Associated with Diabetic Embryopathy in an Infant without a Deletion on Chromosome 22q11
September 30, 2020

Fellow Column: An Unbalanced Translocation Involving Partial Duplication of Chromosome 6 and Partial Deletion of Chromosome 10 in a Premature Infant with Tetralogy of Fallot
September 20, 2020

Williams-Beuren Syndrome Presenting as Pulmonary Edema with Pleural Effusion: A New Pulmonary Manifestation of Elastin Vasculopathy
July 31, 2020

The Genetics Corner: Congenital Microcephaly and a Region of Homozygosity on Chromosome 1 that was not Reported on the Prenatal Chromosome Microarray
June 30, 2020

Kabuki Syndrome in a Newborn with a Complex Left Sided Cardiac Lesion and Persistent Hypoglycemia dueto Hyperinsulinism
May 31, 2020

The Genetics Corner: A Consultation for Neonatal Diabetes Mellitus Reveals Uniparental Disomy 6
January 31, 2020

Genetics Corner: Prenatal Diagnosis of Klinefelter Syndrome
December 31, 2019

Genetics Corner: Genetic Counseling and Family Screening after Prenatal Diagnosis Of Hypoplastic Left Heart Syndrome: Is It Warranted?
November 30, 2019

Genetics Corner: A Consultation for Wolf-Hirschhorn Syndrome
October 31, 2019

Genetics Corner: Translocation Down syndrome
August 31, 2019

Frequently Asked Questions, Part II More about Copy number variants (CNVs), Variants of Uncertain Significance (VUS) in Chromosome Microarrays, with a special focus on Congenital Heart Defects (CHDs)
July 31, 2019

The Genetics Corner: Frequently Asked Questions, Part I: About Copy number variants (CNV), Variants of Uncertain Significance (VUS) in Chromosome Microarrays (CMA)
May 31, 2019

The Genetics Corner: A Consultation for Multiple Congenital Anomalies