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84 Cards in this Set

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Likely inheritance pattern if 50% of children are affected
autosomal dominant
Inheritance of von Willebrand disease
autosomal dominant
Inheritance of neurofibromatosis
autosomal dominant
Inheritance of multiple endocrine neoplasias
autosomal dominant
Inheritance of achondroplasia
autosomal dominant
Inheritance of Marfan sydrome
autosomal dominant
Inheritance of Huntington disease
autosomal dominant
Inheritance of familial hypercholesterolemia
autosomal dominant
Inheritance of familial polyposis coli
autosomal dominant
Inheritance of adult polycystic kidney disease
autosomal dominant
Inheritance of hereditary spherocytosis
autosomal dominant
Inheritance of tuberous sclerosis
autosomal dominant
Inheritance of myotonic dystrophy
autosomal dominant
3 classic findings in neurofibromatosis
- cafe'-au'alit spots, peripheral nerve tumors, acoustic schwannoma
5 classic findings in marfan syndrome
- tall
- arachnodactyly
- mitral valve prolapse
- aortic dissection
- lens disslocation
Findings to look for with familial hypercholesterolemia
- high cholesterol (Really high)
- xantomas
- early coronary disease
Treatment for hereditary spherocytosis
splenectomy
Classic triad of zits, fits and nitwits
tuberous sclerosis
7 classic findings in tuberous sclerosis
- facial angiofibromas (adenoma sebacium)
- seizures
- mental retardation
- CNS hamartomas
- cardia rhabdomycomas
- renal angiomyolipomas
- Hypopigmented skin macules
4 classic findings in myotonic dystrophy
- weakness with inability to RELEASE grip
- balding
- cataracts
- mentl retardation
Likely inheritance pattern if 25% of children affected
autosomal recessive
Inheritance of sphingolidoses
autosomal recessive (except for Fabry's which is x-linked)
Inheritance of mucopolysaccharidoses
autosomal recessive (except for Hunter's which is x-linked)
Inheritance of Glycogen storage disease
autosomal recessive
Inheritance of cystic fibrosis
autosomal recessive
Inheritance of galactosemia
autosomal recessive
Inheritance of amion acid disorders
autosomal recessive
Inheritance of sicle cell disease
autosomal recessive
Inheritance of childhood/infantile polycystic kidney disease
autosomal recessive
Inheritance of wilson's disease
autosomal recessive
inheritance of Hemochromatois
autosomal recessive (usually)
Inheritance of adrenogenital syndrome
autosomal recessive
Child with congenital cataracts and neonatal sepsis should be screened for
galactosemia
Sugars to avoid in galactosemia
galactose and lactose
If an affected father has a carrier daughter, the inheritance is likely
X-linked
Inheritance of hemophilia
X-linked
Inheritance of G6PD defeciency
X-linked
Inheritance of Fabry disease
X-linked
Inheritance of Hunter disease
X-linked
Inheritance of Lesch-Nyhan syndrome
X-linked
Inheritance of Duchenne muscular dystrophy
X-linked
Inheritance of Wiscott-Aldrich syndrome
X-linked
Inheritance of Bruton agammaglobulinemia
X-linked
Inheritance of fragile-X syndrome
X-linked
What is Lesch-Nyhan syndrome?
hypoxanthine-guanine phosphoribosyltransferase (HPRT enzyme) deficiency.
Mental retardation and self-mutilation, think ________
Lesch-Nyhan syndrome
1st and 2nd most common causes of mental retardation in males?
- Down syndrome
- Fragile X
Male patient with large testes and mental retardation likely has
Fragile X
If multiple relatives have a disease but no specific inheritance pattern has been found, it is likely
polygenic
Inheritance of pyloric stenosis
polygenic
Inheritance of cleft lip/palate
polygenic
Inheritance of type II diabetes
polygenic
Inheritance of obesity
polygenic
Inheritance of neural tube defects
polygenic
Inheritance of schizophrenia
polygenic
Inheritance of bipolar disorder
polygenic
Inheritance of ischemic heart disease
polygenic
Inheritance of alcoholism
polygenic
Inheritance of alcoholism is strongest in what family pattern?
From father to son
Chormosomal abnormality of Down syndrome
trisomy 21
Major risk factor od Down syndrom
increasing age of mother
Rate of Down syndrome by mother's age
- 1/1500 of 16 year old mothers
- 1/25 of 45 year old mothers
Baby with hypotonia and transverse palmar crease at birth should be considered for
trisomy 21
4 of the major medical risks with Down Syndrome
- ventricular septal defects
- leukemia
- duodenal atresia
- early Alzheimers disease
Which trisomy is more common in females?
18; Edward syndrome
Edward syndrome is
trisomy 18
Trisomy 18 =
Edward syndrome
A baby with clench fist with index finger overlapping 3rd and 4th fingers =
Edward syndrome
Major features of Edward syndrome
- mental retardation
- small size for age
- small head
- hypoplastic mandible
- low set ears
- clenched fist with overlapping index finger
Patau syndrome =
trisomy 13
Trisomy 13 =
Patau syndrome
Holoprosencephaly and cleft lip/palate likely =
Patau syndrome
Major features of Patau syndrome
- holoprosencephay
- cleft lip/palate
- mental retardation
- apnea
- deafness
- myelomeningocele
- cardiovascular abnormalities
- rocker bottom feet
XO =
Turner syndrome
Turner syndrom =
XO instead of XX
Major features of Turner syndrome
- nuchal lympedema at birth
- short
- webbed neck
- widely spaced nipples
- primary ovarian failure
- Coarctation of the aorta
- Horseshoe kidney
- cystic hygroma
Girl with coarctation of the aorta and cystic hygroma
Turners syndrome
Deletion of short arm of chromosome 5 =
Cri-du-chat
Cri-du-chat =
Deletion of short arm of chromosome 5
High pitched cry with mental retardation is what chomosomal problem?
Deletion of short arm of chromosome 5
XXY =
Klinefelter syndrome
Klinefelter syndrome =
XXY
Most common presentation of Klinefelter syndrome
infertility
Tall thin man with microtestes, sterility and mildly decreased IQ =
Klinefelter syndrome