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Disease Information for Chromosome, ring D syndrome
- 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
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- Child
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- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Chromosomal abnormality (Lab)
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- Amniocentesis/Abnormality
- Amniocentesis/Chorion villi enzyme assay/abnormal
- Disease Mechanism & Classification
- Class
- CLASS/Systemic/no comment (category)
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- PROCESS/Chromosomal disorder (ex)
- PROCESS/Congenital/developmental (category)
- PROCESS/Dystostosis/craniofacial (ex)
- Definition
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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
- Wikipedia
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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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