Genetic Disorders, Misc + CDB Flashcards by CM L

Ataxia, nystagmus, kyphoscoliosis, pes cavus

Friedreich ataxia

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Friedrich ataxia, gene affected

Frataxin

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Friedrich ataxia, chromosome

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MC congenital neuropathy

Charcot-Marie-Tooth Disease (CMT)

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Hammer toes

Charcot-Marie-Tooth Disease (CMT)

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Peroneal muscular atrophy, foot drop, high-arched foot, stork legs

Charcot-Marie-Tooth Disease (CMT)

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Genetic disease classification in which every generation in the population is affected

Autosomal dominant

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Genetic disease classification in which every generation in the population is affected that skips generations (often grandparents has had a similar condition

Autosomal recessive

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Genetic diseases whose risk is increased by consanguinity

Autosomal recessive

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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

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A neurocutaneous syndrome affecting many organs, including the cerebellum, spinal cord, medulla, retina, kidneys, pancreas, and epididymis

von Hippel–Lindau Disease

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von Hippel–Lindau Disease, major neurologic manifestations

1) Cerebellar hemagioblastomas 2) Retinal angiomata

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Most common cause of death associated with von Hippel–Lindau disease

Renal cell CA

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MC kidney CA

Clear cell CA

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􏱄 Telangiectasia
􏱄 Ataxia
􏱄 Variable immunodeficiency
􏱄 Autosomal recessive

Ataxia telangiectasia

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Earliest site of telangiectasia in ataxia–telangectasia

Bulbar conjunctivae

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Choreoathetosis, progressive cerebellar ataxia, chronic sinopulmonary infection, increased risk of malignancy

Ataxia telangiectasia

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Elevated in serum of patients with ataxia telangiectasia

α-fetoprotein + carcinoembryonic antigen

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Microcephaly is defined as

Head circumference > 3 standard deviations below the mean

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Macrocephaly is defined as

Head circumference > 3 standard deviations above the mean

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Microcephaly, mental retardation, high-pitched

crying likened to that of a meowing kitten

Cri du chat syndrome

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Cri du chat syndrome, Mutation

Deletion of 5p (short arm of chromosome 5)

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Male hypogonadism due to the presence of two or more X chromosomes and one or more Y chromosomes

Klinefelter syndrome

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Most common genotype of Klinefelter

47 XXY (meiotic nondisjunction)

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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/F Klinefelter syndrome, increased risk for breast carcinoma

T/F Klinefelter, sterility

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

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

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

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