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As we have worked our way through this book we have used clinical examples as much as possible to highlight key points. The examples we used also were selected for their relative importance. However, not all important conditions to know were discussed in this text. (The conditions specifically mentioned in this text are in the highlighted [bold] words in the list below. For the medical student preparing for your boards, we have compiled a list of conditions we deem "key." We would suggest that you know in detail all the conditions that are bolded. For all others, you should be familiar with the condition and its key features and be able to describe the major genetic mechanism(s) involved in the disease. Of course this list is not comprehensive. It is our "top 125." There are many other conditions that may appear on your boards. This is, however, our attempt to focus on what we see as some of the conditions to highlight.


  • Acute lymphocytic leukemia

  • Ataxia-telangiectasia

  • Bloom syndrome

  • Breast cancer

  • Chronic myeloid leukemia (CML)—Philadelphia chromosome

  • Colon cancer

  • Gardner syndrome/Familial adenomatous polyposis (FAP)

  • Lynch syndrome/Hereditary non-polypotic colorectal cancer (HNPCC)

  • Dyskeratosis congenita

  • Ewing sarcoma

  • Multiple endocrine neoplasias (MEN)

  • Neurofibromatosis type 1

  • Neurofibromatosis type 2

  • Pancreatic cancer

  • Prostate cancer

  • Retinoblastoma

  • Tuberous sclerosis

  • von Hippel-Lindau disease


  • 1q21.1 deletion

  • 22q.11.2 deletion (including DiGeorge syndrome and Shprintzen/velo-cardio-facial syndrome)

  • 47 XXX

  • 47 XYY

  • Cri-du-chat syndrome (5p-)

  • Klinefelter syndrome (XXY) and variants

  • Triploidy

  • Trisomy 13

  • Trisomy 18

  • Trisomy 21 (Down syndrome)

  • Turner syndrome (monosomy X)

  • Wolf-Hirschhorn syndrome (4p-)

Common Disorders (Single Gene or Multifactorial)

  • Achondroplasia

  • Beckwith-Wiedemann syndrome

  • Cystic fibrosis

  • Duchenne/Becker muscular dystrophy

  • Fragile X

  • Friedrich ataxia

  • Hearing loss (Connexin 26)

  • Hemochromatosis (very common genetic disease)

  • Hemophilia A and B

  • Hereditary spherocytosis

  • Huntington disease

  • Hypophosphatemic rickets

  • Long QT syndrome

  • Ehlers Danlos syndrome(s)

  • Marfan syndrome

  • Myotonic dystrophy

  • Neurofibromatosis type 1

  • Ocular albinism

  • Osteogenesis imperfecta type I

  • Polycystic kidney diseases (adult and childhood types)

  • Spinocerebellar ataxia/olivopontocerebellar atrophy

  • Thalassemia

Dysmorphology Syndromes/Malformations

  • Aicardi syndrome

  • Albright hereditary osteodystrophy

  • Angelman syndrome

  • Bardet-Biedel syndrome

  • CHARGE syndrome

  • Cleft lip with or without cleft palate

  • Club foot

  • Congenital heart disease (know the types associated with common syndromes)

  • Craniofrontonasal dysplasia

  • Ectodermal dysplasia

  • Gorlin syndrome

  • Holoprosencephaly

  • Joubert syndrome

  • Kabuki syndrome

  • Kartegener syndrome

  • McCune-Albright syndrome

  • Noonan syndrome and related RASopathies

  • Neural tube defects

  • Prader-Willi syndrome

  • Pyloric stenosis

  • Saethre-Chotzen syndrome

  • Sotos syndrome

  • VATER association

  • van der Woude syndrome

  • Waardenburg syndrome

  • Williams syndrome

Immune System Disorders

  • Bruton agammaglobulinemia

  • Severe combined immune deficiency (SCID)

  • Wiskott-Aldrich syndrome

Inborn Errors of Metabolism

  • Albinism

  • Alkaptonuria

  • Alpha 1-antitrypsin deficiency

  • Biotinidase deficiency

  • Congenital disorders of glycosylation

  • Fabry

  • Familial hypercholesterolemia

  • Fructosemia

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency

  • Galactosemia

  • Gaucher disease

  • Glycogen storage diseases especially Pompe disease

  • Homocystinuria (and hyper-homocysteinemia)

  • Hunter syndrome

  • Hurler syndrome...

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