Category: Genetic

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
August 31, 2020

The Genetics Corner: HNF1B-Related Bilateral Cystic Kidney Disease in an Infant and his Asymptomatic Mother
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
April 30, 2020

The Genetics Corner: Perisylvian Polymicrogyria and Seizures in One of Monochorionic Diamniotic Twins Following Twin-Twin-Transfusion Syndromeand in utero Laser Ablation Therapy
March 31, 2020

Genetics Corner: A Lethal Ciliopathy Affects Two Siblings with Renal Dysplasia and Oligohydramnios
March 31, 2020

Fellow Column: Aphallia in a Neonate with Kleinfelter’s Syndrome: A Case Report
February 29, 2020

Genetics Corner: Alveolar Simplification and Down Syndrome
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)