Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
84 Cards in this Set
- Front
- Back
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
|