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Trisomies

 * Trisomy 13
 * Trisomy 18
 * Trisomy 21

Sex Chromosome Abnormalities

 * 47, XXY
 * 47, XYY
 * 47, XXX
 * 45, X

Partial Aneuploidies

 * Mosaic Trisomy 8
 * Mosaic Trisomy 9
 * Tetrasomy 12p
 * Ring X
 * Cat-Eye Syndrome

Uniparental Disomy

 * Prader-Willi Syndrome
 * Angelman Syndrome
 * Uniparental Disomy 14

Deletion Syndromes

 * Deletion 4p- (Wolf-Hirschhorn Syndrome)
 * Deletion 5p- Syndrome (Cri-du-Chat Syndrome)

Contiguous Gene Syndromes

 * WAGR
 * Williams Syndrome
 * Velocardiofacial Syndrome
 * Miller-Dieker Syndrome

Syndrome

 * Stickler Syndrome
 * Russell-Silver Syndrome
 * McCune Albright Syndrome
 * Smith-Lemli-Opitz Syndrome
 * Bardet-Biedel Syndrome
 *  Autosomal Dominant 
 * Saethre-Chotzen Syndrome
 * Noonan Syndrome
 * CHARGE
 * Branchio-Oculo-Facial Syndrome
 * Holt-Oram Syndrome
 * Cornelia de Lange Syndrome
 *  Autosomal Recessive 
 * Senior Loken Syndrome
 * Coffin Siris Syndrome
 *  X-Linked 
 * Cornelia de Lange Syndrome
 * Coffin-Lowry Syndrome


 * Overgrowth/Cancer Syndromes
 * Tuberous Sclerosis
 * MEN2B
 * Bannayan-Riley-Ruvalcaba
 * Beckwith-Wiedemann Syndrome
 * Proteus Syndrome
 * Neurofibromatosis 1
 * Basal Cell Nevus Syndrome/Gorlin Syndrome
 * Teratogen Exposure Syndromes 
 * Fetal Alcohol Syndrome
 * Fetal Anticonvulsant Exposure

Association

 * VATER/VACTERL
 * MURCS
 * CHARGE - now a Syndrome

Sequence

 * Oligohydramnios/Potter Sequence
 * Pierre-Robin Sequence

Complex

 * Cloacal Exstrophy Complex

Intellectual Disability

 * Menke's Disease
 * Kabuki Syndrome
 * Lesch-Nyhan Syndrome
 * Smith Magenis Syndrome
 * Homocystinuria
 *  X-Linked Intellectual Disability 
 * ARX gene
 * Rett Syndrome
 * Fragile X
 * Hypomelanosis of Ito

Teratogen Lecture

 * Antidepressant Exposure
 * Carbamazepine Exposure
 * Phenytoin Exposure
 * Phenobarbital Exposure
 * Valproic Acid Exposure
 * Warfarin Exposure
 * Isotretinoin (Accutane) Exposure
 * Thalidomide Exposure
 * Lithium Exposure
 * Diethylstilbesterol (DES) Exposure
 * Misoprostol (Cytotec) Exposure
 * Nicotine Exposure
 * Cocaine Exposure
 * Heroin Exposure
 * Alcohol Exposure
 * Antibiotic Exposure
 * Diabetes Mellitus
 * Maternal PKU
 * Toxoplasmosis
 * Parvovirus B19
 * Rubella
 * Cytomegalovirus

Preconception Counseling Lecture

 * Sickle Cell Anemia
 * Tay-Sachs Disease
 * Canavan Disease
 * Cystic Fibrosis
 * B-Thalassemia
 * a-Thalassemia
 * Gaucher Disease
 * Connexin 26
 * Fanconi Anemia
 * Mucolipidosis IV
 * Bloom Syndrome
 * Niemann Pick A
 * Familial dysautonomia
 * Glycogen Storage Disease Type 1A (Von Gierke Disease)
 * Maple Syrup Urine Disease
 * Dihydrolipoamide Dehydrogenase Deficiency (DLD)
 * Familial hyperinsulinism (FHI)
 * Nemaline Myopathy
 * Usher Syndrome
 * Spinal Muscular Atrophy

Prenatal Screening/Diagnosis Lectures

 * Nuchal Translucency
 * Nasal Bone
 * AFP
 * Inhibin
 * hCG
 * PAPP-A
 * uE3
 * cfDNA/NIPT
 * Nuchal Fold
 * Cystic Hygroma
 * Short Long Bones
 * Echogenic Bowel
 * Pyelectasis (urinary tract dilation)/Hydronephrosis
 * Echogenic Intracardiac Focus (EIF)
 * Ventriculomegaly
 * Choroid Plexus Cysts
 * Single Umbilical Artery
 * Clubfeet
 * Cleft Lip/Palate
 * Omphalocele
 * Gastroschisis
 * Neural Tube Defects
 * Congenital Heart Defects

Metabolic Disorder

 * Phenylketonuria
 * Tyrosinemia Type I
 * Maple Syrup Urine disease
 * Homocystinuria
 * Arginase Deficiency
 * Arginosuccinate Lyase Deficiency
 * Citrullinemia
 * Ornithine Transcarbylase Deficiency (OTC)
 * Beta-ketothiolase Deficiency (BTK)
 * Glutaric Aciduria Type I (GAI)
 * Isovaleric Acidemia (IVA)
 * Propionic Acidemia (PA)
 * Metylmalonic Acidemia (MMA)
 * Glutaric Acidemia Type II (GAII/MADD)
 * LCHADD/Trifunctional Protein Deficiency (TFP)
 * VLCADD
 * MCADD
 * SCADD

Lysosomal Storage Disorders

 * Pompe Disease (Glycogen Storage Disease Type II)
 * Mucopolysaccharidoses
 * MPS I (Hurler Syndrome
 * MPS II (Hunter Syndrome)
 * MPS III (Sanfillippo)
 * MPS IVA (Morquio)


 * Sphingolipidoses
 * Gaucher
 * Niemann Pick C
 * Tay Sachs
 * Fabry

Mitochondrial Disease

 * MELAS
 * MERRF
 * Leber Hereditary Optic Neuropathy (LHON)
 * Kearns-Sayre Syndrome (KSS)
 * Progressive External Opthalmoplegia (PEO)
 * mtDNA Depletion Syndrome
 * Leigh Syndrome (LS)
 * NARP
 * Isolated Myopathy
 * Barth Syndrome

Hereditary Breast & Ovarian Cancer

 * Hereditary Breast & Ovarian Cancer Syndrome
 * Li-Fraumeni Syndrome
 * PTEN Hamartomatous Tumor Syndrome/Cowden Syndrome
 * Peutz Jeghers Syndrome
 * Hereditary Diffuse Gastric Cancer
 * PALB2
 * CHEK2
 * ATM
 * Ataxia Telangiectasia
 * Fanconi Anemia

Colorectal Cancer

 * Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome/Muir Torre Variant
 * Familial Adenomatous Polyposis (FAP)/Gardner Syndrome
 * Attenuated Familial Adenomatous Polyposis (AFAP)
 * MutYH Associated Polyposis (MAP)
 * Turcot Syndrome

Renal Cell Carcinoma

 * Von Hippel-Lindau (VHL)
 * Hereditary Leiomyomatosis & RCC (HLRCC)
 * Fumarate Hydratase Deficiency
 * Hereditary Papillary RCC (HPRCC)
 * Birt-Hogg-Dube Syndrome
 * Tuberous Sclerosis
 * BAP1 Tumor Predisposition Syndrome
 * MITF
 * PBRM1
 * CDKN2B
 * Pheochromocytoma
 * Paraganglioma
 * MEN2A
 * MEN2B

Moderate Penetrance Genes Lecture

 * BARD1
 * NBN
 * RAD50
 * BRIP1
 * FANCC
 * RAD51C
 * MRE11A
 * BMPR1A
 * SMAD4
 * GREM1
 * POLE
 * POLD1
 * AXIN2

Endocrine Tumor Genetics

 * MEN1
 * MEN2
 * Hereditary PGL/Pheo
 * Von-Hippel-Lindau
 * Neurofibromatosis Type 1
 * Cowden Syndrome
 * Hyperparathyroidism-Jaw Tumor Syndrome
 * Familial Isolated Hyperparathyroidism
 * Familial Isolated Pituitary Adenoma
 * Carney Complex

Pediatric Cancer Syndromes

 * Retinoblastoma
 * DICER1 Syndrome
 * Fanconi Anemia
 * Nijmegan Breakage Syndrome
 * Ataxia Telangiectasia
 * Wilms Tumor
 * Neuroblastoma
 * Basal Cell Nevus Syndrome
 * Rhabdoid Tumor
 * Li-Fraumeni Syndrome
 * CMMR-D syndrome
 * Cowden Syndrome
 * Familial Adenomatous Polyposis
 * Juvenile Polyposis
 * PGL-Pheo Syndrome
 * Von-Hippel-Lindau
 * Peutz-Jeghers Syndrome

Skin Cancer Genetics

 * BAP1 Tumor Predisposition Syndrome
 * TERT
 * Hereditary Cutaneous Melanoma
 * MC1R
 * CDKN2A
 * MITF
 * Basal Cell Nevus Syndrome (Gorlin Syndrome)
 * Xeroderma Pigmentosum

Hereditary Diffuse Gastric Cancer

 * CDH1 