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## Aneuploidies you people are sick.

### **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

## Structural Chromosome Abnormalities

### **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

## Dysmorphology Lecture

#### **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

## Intellectual Disability Lecture

### **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