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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.
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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
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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-)
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Common Disorders (Single Gene or Multifactorial)
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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
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Dysmorphology Syndromes/Malformations
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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
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Immune System Disorders
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Inborn Errors of Metabolism
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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...