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Genetic Abnormality

Genetic Abnormalities Presentation

What type of chromosome # abnormality is Turner Syndrome? Monosomy- 1 chromosomal pair at specific site
Common population with Turner Syndrome? Newborn girls
Turner Syndrome looks like Transient congenital lymphedema; Small stature; Web-like lateral neck; Gonadal underdevelopment; Bone trabecular abnormalities; Possible cognitive deficiencies
What is trisomy? 3 of particular chromosome at specific site
What disease is trisomy? Kleinfelter syndrome
Kleinfelter Syndrome population 1/500 males
Kleinfelter Syndrome most common cause of _________ in males Infertility
S/sx Kleinfelter Syndrome Hypogonadism, Long limbs, Slim stature, Obesity if don't get testosterone replacement prior to puberty
Trisomy 21 Down Syndrome; Most frequent type with cognitive delay; Increased maternal/paternal age
Cri Du Chat due to? Chromosomal Deletion of short arm of chromosome 5
Cri Du Chat S/sx Abnormal laryngeal development (weak cry); Cognitive deficit w/ microcephaly; Hypotonia; Scoliosis; Congenital heart abnormalities in 30%
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
Autosomal Dominant- Osteogenesis Imperfecta (OI) Error in collagen development resulting in multiple fx's
Which types of OI are autosomal dominant & result from spontaneous mutations? 1, 2, 4
Which type of OI is autosomal recessive? 3
Type 4 OI Mild: Osteoporosis, Normal sclerae, Limited fx #s
Type 2 OI Congenitally lethal resulting in stillborn infants
Type 1 OI Good prognosis; Long bones most affected fx sites; Fx decrease post-puberty but pregnancy lactation & inactivity can negatively affect outcomes
Autosomal Recessive Both parents transmit; 25% offspring have disorder
2 Autosomal Recessive Disorders CF; SMA
Microdeletions; Prader-Will Father; Mild cognitive delay, hypotonia, short stature; Hyperphagia--obesity; Subtype of fragile x sx
Microdeletions: Angelman Mother; Severe cognitive delay; Microcephaly; Seizures; Ataxia with puppet-like gait & frequent laughter
X-Linked primarily affects what sex? Boys
X-Linked Diseases Duchenne MD; Fragile X; Lesch-Nyhan; Rett
Fragile X Syndrome Normal lifespan; Most common cause of male mental retardation second to Downs; Increased head circumference; Prominent forehead, hypotonia, torticollis & scoliosis
Lesch-Nyhan is excessive production of? Uric Acid
Lesch-Nyhan pasticity at 6-8 months; Choreoathetosis; Autism; Self mutilation tendences (ie biting self)
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
Amputations/Limb Deficiencies- Congenital Amputations happen when? Within first 4-6 week gestation
Ingestion of what has been correlated to limb absence/partial absence? Thalidomide
Premature amnion rupture may cause? Band restriction around a limb
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
Erbs Palsy C5-6; Paralysis of levator scapulae, rhomboids, deltoid, serratus anterior, supinator, forearm extensors
Klumpke Paralysis/Palsy C7-T1; More distal problems
Erb-Klumpke Mixed involvement from C5-T1
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
Torticollis Treatment Frequent stretching of SCM; Helmet
Created by: 1190550002
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