Genetic Abnormalities Presentation
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| What type of chromosome # abnormality is Turner Syndrome? | Monosomy- 1 chromosomal pair at specific site
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| Common population with Turner Syndrome? | Newborn girls
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| Turner Syndrome looks like | Transient congenital lymphedema; Small stature; Web-like lateral neck; Gonadal underdevelopment; Bone trabecular abnormalities; Possible cognitive deficiencies
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| What is trisomy? | 3 of particular chromosome at specific site
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| What disease is trisomy? | Kleinfelter syndrome
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| Kleinfelter Syndrome population | 1/500 males
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| Kleinfelter Syndrome most common cause of _________ in males | Infertility
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| S/sx Kleinfelter Syndrome | Hypogonadism, Long limbs, Slim stature, Obesity if don't get testosterone replacement prior to puberty
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| Trisomy 21 | Down Syndrome; Most frequent type with cognitive delay; Increased maternal/paternal age
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| Cri Du Chat due to? | Chromosomal Deletion of short arm of chromosome 5
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| Cri Du Chat S/sx | Abnormal laryngeal development (weak cry); Cognitive deficit w/ microcephaly; Hypotonia; Scoliosis; Congenital heart abnormalities in 30%
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| Autosomal Dominant- Achondroplasia most common cause of? | Short Stature; New mutations 80-90% incidence; Bilateral shortness of humerus & femur; Macrocephaly w/ hydrocephalus at birth; 46% spinal complications
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| Autosomal Dominant- Osteogenesis Imperfecta (OI) | Error in collagen development resulting in multiple fx's
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| Which types of OI are autosomal dominant & result from spontaneous mutations? | 1, 2, 4
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| Which type of OI is autosomal recessive? | 3
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| Type 4 OI | Mild: Osteoporosis, Normal sclerae, Limited fx #s
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| Type 2 OI | Congenitally lethal resulting in stillborn infants
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| Type 1 OI | Good prognosis; Long bones most affected fx sites; Fx decrease post-puberty but pregnancy lactation & inactivity can negatively affect outcomes
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| Autosomal Recessive | Both parents transmit; 25% offspring have disorder
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| 2 Autosomal Recessive Disorders | CF; SMA
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| Microdeletions; Prader-Will | Father; Mild cognitive delay, hypotonia, short stature; Hyperphagia--obesity; Subtype of fragile x sx
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| Microdeletions: Angelman | Mother; Severe cognitive delay; Microcephaly; Seizures; Ataxia with puppet-like gait & frequent laughter
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| X-Linked primarily affects what sex? | Boys
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| X-Linked Diseases | Duchenne MD; Fragile X; Lesch-Nyhan; Rett
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| Fragile X Syndrome | Normal lifespan; Most common cause of male mental retardation second to Downs; Increased head circumference; Prominent forehead, hypotonia, torticollis & scoliosis
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| Lesch-Nyhan is excessive production of? | Uric Acid
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| Lesch-Nyhan | pasticity at 6-8 months; Choreoathetosis; Autism; Self mutilation tendences (ie biting self)
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| Rett Syndrome | Females only, Males die at birth; Normal development followed by gradual loss of cognitive communication & motor skills, onset of hypotonia & ataxia; Often mis-dx'd as autism due to trunk rocking & decreased language & eye contact
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| Amputations/Limb Deficiencies- Congenital Amputations happen when? | Within first 4-6 week gestation
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| Ingestion of what has been correlated to limb absence/partial absence? | Thalidomide
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| Premature amnion rupture may cause? | Band restriction around a limb
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| Brachial Plexus Injury | Compression or traction; Unilateral; Trauma or anomalies such as cervical rib/abnormal thoracic vertebrae; Usu associated with difficult birth; Px related to injury severity
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| Erbs Palsy | C5-6; Paralysis of levator scapulae, rhomboids, deltoid, serratus anterior, supinator, forearm extensors
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| Klumpke Paralysis/Palsy | C7-T1; More distal problems
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| Erb-Klumpke | Mixed involvement from C5-T1
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| Torticollis | Fetal positioning or may develop post-natally due to excessive stretch during delivery; Exaggerated lateral flexion & rotation of head due to SCM tightness & plagiocephaly
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| Torticollis Treatment | Frequent stretching of SCM; Helmet
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