Disease Information for Trisomy-21 partial translocation

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Low Arch Dermal Ridge Pattern
Palm/simian crease (single)
Low birth weight/newborn/SGA/Small for gestational age
Newborn posterior neck skin folds/edema
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Shallow Breathing Infant
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Established Disease Population
Patient/Down's syndrome
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Maternal Chromosome Fragment Excess
Chromosome Karyotype Abnormal
Maternal MSAFP/Quad test (Inhibin A/HG/UE3/AFP)
Maternal triple test (APF/HG/Estriol) abnormal (labs)
MSAFP test (maternal) abnormal (labs)
Abnormal Lab Findings - Decreased
Amniocentesis/Alfa-fetoprotein (AFP) Level
Maternal AFP levels
Testosterone Total (Lab)
Abnormal Lab Findings - Increased
Maternal Inhibin A levels (labs)
Associated Diseases & Rule outs
Rule Outs
Turner syndrome
Associated Disease & Complications
Abdominal muscle deficiency syndrome
Breech/difficulty delivery/lie
Down's Syndrome
Lymphoblastic leukemia/acute
Microcephaly/oligophrenia
Neonatal hyperbilirubinemia
Neonatal Hypotonia/Floppy Baby Syndrome
Obesity
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Chromosomal translocation
Pathophysiology/Chromosomes/47 count
Pathophysiology/Gene locus chromosome 21
Pathophysiology/Extra-chromosomal material present
Pathophysiology/Aneuploidy (Error Number of Chromosomes)
Pathophysiology/Chemotaxis failure/phagocytes/effect
Pathophysiology/Defective leukocyte killing activity
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Treatment
Drug Therapy - Indication
TX/Amniocentesis Indication
Definition
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External Links Related to Trisomy-21 partial translocation
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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