Help
Options
Didn't know it?
click below
click below
Knew it?
click below
click below
Don't Know
Remaining cards (0)
Know
retry
shuffle
restart
0:00
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Genetic Abnormality
Genetic Abnormalities Presentation
| Question | Answer |
|---|---|
| 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
Popular Physical Therapy sets