Genetic Disorders, Misc + CDB Flashcards
Ataxia, nystagmus, kyphoscoliosis, pes cavus
Friedreich ataxia
Friedrich ataxia, gene affected
Frataxin
Friedrich ataxia, chromosome
9
MC congenital neuropathy
Charcot-Marie-Tooth Disease (CMT)
Hammer toes
Charcot-Marie-Tooth Disease (CMT)
Peroneal muscular atrophy, foot drop, high-arched foot, stork legs
Charcot-Marie-Tooth Disease (CMT)
Genetic disease classification in which every generation in the population is affected
Autosomal dominant
Genetic disease classification in which every generation in the population is affected that skips generations (often grandparents has had a similar condition
Autosomal recessive
Genetic diseases whose risk is increased by consanguinity
Autosomal recessive
Genetic disease classification in which only males are affected; females are unaffected or only partially affected (due to lyonization) carriers of the trait
X-linked recessive
A neurocutaneous syndrome affecting many organs, including the cerebellum, spinal cord, medulla, retina, kidneys, pancreas, and epididymis
von Hippel–Lindau Disease
von Hippel–Lindau Disease, major neurologic manifestations
1) Cerebellar hemagioblastomas 2) Retinal angiomata
Most common cause of death associated with von Hippel–Lindau disease
Renal cell CA
MC kidney CA
Clear cell CA
Telangiectasia
Ataxia
Variable immunodeficiency
Autosomal recessive
Ataxia telangiectasia
Earliest site of telangiectasia in ataxia–telangectasia
Bulbar conjunctivae
Choreoathetosis, progressive cerebellar ataxia, chronic sinopulmonary infection, increased risk of malignancy
Ataxia telangiectasia
Elevated in serum of patients with ataxia telangiectasia
α-fetoprotein + carcinoembryonic antigen
Microcephaly is defined as
Head circumference > 3 standard deviations below the mean
Macrocephaly is defined as
Head circumference > 3 standard deviations above the mean
Microcephaly, mental retardation, high-pitched
crying likened to that of a meowing kitten
Cri du chat syndrome
Cri du chat syndrome, Mutation
Deletion of 5p (short arm of chromosome 5)
Male hypogonadism due to the presence of two or more X chromosomes and one or more Y chromosomes
Klinefelter syndrome
Most common genotype of Klinefelter
47 XXY (meiotic nondisjunction)
Hormonal derrangement in Klinefelter
Increased level of follicle-stimulating hormone
(FSH) and LH decreased level of testosterone
T/F Klinefelter syndrome, most have normal intelligence
T
T/F Klinefelter syndrome, increased risk for breast carcinoma
T
T/F Klinefelter, sterility
T
Klinefelter habitus
Eunuchoid
Risk factor for Klinefelter
Advanced maternal age
Barr body
Klinefelter
T/F Klinefelter, administration of testosterone during puberty to improve secondary sex characteristics
T
Pterygium colli
Webbed neck
Short stature
Phenotypically female
Pterygium colli
Increased distance between nipples (shield chest)
Turner’s Syndrome
Genotype of Turner’s Syndrome
45 XO [Think hugs and kisses from Tina Turner]
T/F Turner’s Syndrome is related to advanced maternal age
F
Cardiac anomaly associated with Turner
Coarctation of aorta
Ovaries in Turner
Ovarian dysgenesis (streak gonads)
Most common cause of primary amenorrhea
Turner’s syndrome
Multiple neck cysts
Cystic hygroma
Cystic hygroma is associated with what chromosomal abnormality
Turner syndrome
Horseshoe kidney is associated with what chromosomal abnormality
Turner syndrome
Short fourth metacarpal is associated with what chromosomal abnormality
Turner syndrome
Male counterpart of Turner
Noonan
Cardinal feature of Turner
Short stature
MC sex chromosomal abnormality in females
Turner syndrome
Pigmented nevi
Cubitus valgus
Impaired hearing
Lymphedema of hands and feet
Turner syndrome
Obesity, small stature, hyperphagia, mental retardation, microcephaly, behavioural problems, OC [think small fat kid with a small head who is dumb and always eating]
Prader-Willi syndrome
Paternal deletion of chromosome 15 (15q11) → q13
Prader-Willi syndrome [Prader sounds like Father]
Maternal deletion of chromosome 15 (15q11) → q13
Angelman syndrome
Factors leading to obesity in Prader-Willi syndrome
Hyperphagia/lack of satiety, decreased caloric requirement secondary to hypotonia/decreased movement, and obsessions/compulsions that focus on food
___ is the key to quality and quantity of life in Prader-Willi syndrome
Early prevention of obesity
Happy, laughing disposition—previously known as the “happy puppet” or “marionette joyeuse” syndrome, because of this and stereotyped flap- ping of hands
Angelman syndrome
Often strikingly attractive children with lighter pigmentation than other family members (often blond-haired, blue-eyed) but with complete absence of speech
Angelman syndrome
MC X chromosome abnormality in women
47, XXX (maternal meiotic nondisjunction)
MC cause of death in Prader-Willi syndrome
Complications of obesity
Hemihypertrophy, macroglossia, visceromegaly, facial nevus flammeus, earlobe creases
Beckwith-Wiedemann syndrome
Pediatric neoplasm associated with Beckwith-Wiedemann syndrome
Wilms tumor
Macroglossia
Downs, hypothyroidism, beckwidth-wiedemann
Trisomy 18
Edwards syndrome [THINK 18 is the age when you can vote, E-lect]
rocker bottom feet, micrognathia, overlapping 4th and 5th fingers, death 1st yr birth
Edwards syndrome
MC heart disease in Edwards syndrome
VSD
Trisomy 13
Patau’s syndrome [THINK 13 is the age of P-uberty]
microphthalmia, microcephaly, poldactyly, holoprosencephaly (one hemisphere), death w/in one year
Patau’s syndrome
MC genetic mental retardation
Fragile X syndrome
large jaw, large testes, large ears, autistic behavior
Fragile X syndrome
Trisomy 21
Down [THINK 21 is the age when you can D-rink alcohol]
Chromosome 21 encodes two of the three proteins needed to assemble the triple helix of collagen ___, which is found to be abnormal in people with Down’s syndrome
VI
Every patient with Down’s must have a cervical spine x-ray before being cleared to participate in sports, due to risk of ___.
Atlantoaxial dislocation
GI abnormalities associated with Down
Duodenal atresia, imperforate anus, Hirschprung
MC cancer in Down
Leukemia (ALL, AML)
Camptodactyly (little finger fixed in flexion) is seen in
Edwards
Cardiac anomaly seen in Edwards
Redundancy of cardiac valve leaflets
MCC od death in Edwards
Apnea
Patau
75% complete trisomy
23% ___ translocation (to chromosome 14)
Robertsonian
what is the most common congenital heart defect in down syndrome
endocardial cushion defect of atrioventricular canal
