Disease Information for Chromosome, ring D syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
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)
Chromosomal abnormality (Lab)
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Chorion villi enzyme assay/abnormal
Disease Mechanism & Classification
Class
CLASS/Systemic/no comment (category)
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Dystostosis/craniofacial (ex)
Definition

Chromosome 4 ring syndrome: A syndrome in which parts of both ends of chromosome 4 have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure; Clinical manifestations vary according to the breakpoints and their distance to the telomeres and include developmental delay and neurological, craniofacial, skeletal, genitourinary, and cutaneous anomalies, some of which overlap those of Seckel and Wolf-Hirschhorn syndromes;

Synonyms: ring chromosome 4 syndrome;Chromosomes, Human, Pair 4; Ring Chromosomes; Heredity: Rings include r(4)(p15_q35), r(4)(q12), r(4)(p16q35), r(4)(p16_1q35), r(4)(p16_2q32), r(4)(p16_2q35)-----------[JABLONSKI MCA/MR website 2005]--------------------

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External Links Related to Chromosome, ring D syndrome
Google
Wikipedia
Merck
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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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