Usmle Genetics

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Likely inheritance pattern if 50% of children are affected

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autosomal dominant

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Inheritance of von Willebrand disease

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autosomal dominant

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Inheritance of neurofibromatosis

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autosomal dominant

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Inheritance of multiple endocrine neoplasias

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autosomal dominant

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Inheritance of achondroplasia

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autosomal dominant

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Inheritance of Marfan sydrome

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autosomal dominant

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Inheritance of Huntington disease

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autosomal dominant

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Inheritance of familial hypercholesterolemia

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autosomal dominant

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Inheritance of familial polyposis coli

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autosomal dominant

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Inheritance of adult polycystic kidney disease

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autosomal dominant

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Inheritance of hereditary spherocytosis

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autosomal dominant

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Inheritance of tuberous sclerosis

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autosomal dominant

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Inheritance of myotonic dystrophy

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autosomal dominant

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3 classic findings in neurofibromatosis

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- cafe'-au'alit spots, peripheral nerve tumors, acoustic schwannoma

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5 classic findings in marfan syndrome

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- tall
- arachnodactyly
- mitral valve prolapse
- aortic dissection
- lens disslocation

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Findings to look for with familial hypercholesterolemia

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- high cholesterol (Really high)
- xantomas
- early coronary disease

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Treatment for hereditary spherocytosis

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splenectomy

Front 18

Classic triad of zits, fits and nitwits

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tuberous sclerosis

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7 classic findings in tuberous sclerosis

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- facial angiofibromas (adenoma sebacium)
- seizures
- mental retardation
- CNS hamartomas
- cardia rhabdomycomas
- renal angiomyolipomas
- Hypopigmented skin macules

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4 classic findings in myotonic dystrophy

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- weakness with inability to RELEASE grip
- balding
- cataracts
- mentl retardation

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Likely inheritance pattern if 25% of children affected

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autosomal recessive

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Inheritance of sphingolidoses

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autosomal recessive (except for Fabry's which is x-linked)

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Inheritance of mucopolysaccharidoses

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autosomal recessive (except for Hunter's which is x-linked)

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Inheritance of Glycogen storage disease

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autosomal recessive

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Inheritance of cystic fibrosis

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autosomal recessive

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Inheritance of galactosemia

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autosomal recessive

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Inheritance of amion acid disorders

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autosomal recessive

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Inheritance of sicle cell disease

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autosomal recessive

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Inheritance of childhood/infantile polycystic kidney disease

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autosomal recessive

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Inheritance of wilson's disease

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autosomal recessive

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inheritance of Hemochromatois

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autosomal recessive (usually)

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Inheritance of adrenogenital syndrome

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autosomal recessive

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Child with congenital cataracts and neonatal sepsis should be screened for

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galactosemia

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Sugars to avoid in galactosemia

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galactose and lactose

Front 35

If an affected father has a carrier daughter, the inheritance is likely

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X-linked

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Inheritance of hemophilia

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X-linked

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Inheritance of G6PD defeciency

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X-linked

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Inheritance of Fabry disease

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X-linked

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Inheritance of Hunter disease

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X-linked

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Inheritance of Lesch-Nyhan syndrome

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X-linked

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Inheritance of Duchenne muscular dystrophy

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X-linked

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Inheritance of Wiscott-Aldrich syndrome

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X-linked

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Inheritance of Bruton agammaglobulinemia

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X-linked

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Inheritance of fragile-X syndrome

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X-linked

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What is Lesch-Nyhan syndrome?

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hypoxanthine-guanine phosphoribosyltransferase (HPRT enzyme) deficiency.

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Mental retardation and self-mutilation, think ________

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Lesch-Nyhan syndrome

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1st and 2nd most common causes of mental retardation in males?

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- Down syndrome
- Fragile X

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Male patient with large testes and mental retardation likely has

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Fragile X

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If multiple relatives have a disease but no specific inheritance pattern has been found, it is likely

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polygenic

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Inheritance of pyloric stenosis

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polygenic

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Inheritance of cleft lip/palate

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polygenic

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Inheritance of type II diabetes

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polygenic

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Inheritance of obesity

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polygenic

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Inheritance of neural tube defects

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polygenic

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Inheritance of schizophrenia

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polygenic

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Inheritance of bipolar disorder

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polygenic

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Inheritance of ischemic heart disease

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polygenic

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Inheritance of alcoholism

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polygenic

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Inheritance of alcoholism is strongest in what family pattern?

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From father to son

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Chormosomal abnormality of Down syndrome

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trisomy 21

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Major risk factor od Down syndrom

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increasing age of mother

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Rate of Down syndrome by mother's age

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- 1/1500 of 16 year old mothers
- 1/25 of 45 year old mothers

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Baby with hypotonia and transverse palmar crease at birth should be considered for

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trisomy 21

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4 of the major medical risks with Down Syndrome

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- ventricular septal defects
- leukemia
- duodenal atresia
- early Alzheimers disease

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Which trisomy is more common in females?

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18; Edward syndrome

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Edward syndrome is

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trisomy 18

Front 67

Trisomy 18 =

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Edward syndrome

Front 68

A baby with clench fist with index finger overlapping 3rd and 4th fingers =

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Edward syndrome

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Major features of Edward syndrome

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- mental retardation
- small size for age
- small head
- hypoplastic mandible
- low set ears
- clenched fist with overlapping index finger

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Patau syndrome =

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trisomy 13

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Trisomy 13 =

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Patau syndrome

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Holoprosencephaly and cleft lip/palate likely =

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Patau syndrome

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Major features of Patau syndrome

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- holoprosencephay
- cleft lip/palate
- mental retardation
- apnea
- deafness
- myelomeningocele
- cardiovascular abnormalities
- rocker bottom feet

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XO =

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Turner syndrome

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Turner syndrom =

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XO instead of XX

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Major features of Turner syndrome

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- nuchal lympedema at birth
- short
- webbed neck
- widely spaced nipples
- primary ovarian failure
- Coarctation of the aorta
- Horseshoe kidney
- cystic hygroma

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Girl with coarctation of the aorta and cystic hygroma

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Turners syndrome

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Deletion of short arm of chromosome 5 =

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Cri-du-chat

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Cri-du-chat =

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Deletion of short arm of chromosome 5

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High pitched cry with mental retardation is what chomosomal problem?

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Deletion of short arm of chromosome 5

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XXY =

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Klinefelter syndrome

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Klinefelter syndrome =

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XXY

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Most common presentation of Klinefelter syndrome

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infertility

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Tall thin man with microtestes, sterility and mildly decreased IQ =

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Klinefelter syndrome