Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Ring chromosomes > ring chromosome 4

ring chromosome 4

Tuesday 19 April 2005

Synopsis

- left upper amelia (8933346)
- congenital short bowel with malrotation and pseudo-obstruction (8933346)
- dextrocardia with situs solitus (8933346)
- patent ductus arteriosus (8933346)
- splenic atrophy (8933346)
- intra-uterine growth retardation (IUGR) (1987971)
- microcephaly (1987971)
- hypertelorism(1987971)
- hypoplastic genitalia (1987971)
- two-vessel umbilical cord (1987971)

Varaiants

- r(4)(p15-q35) (1987971)
- mosaic ring chromosome 4 (16103661#)

References

- Lee MH, Park SY, Kim YM, Kim JM, Yoo KJ, Lee HH, Ryu HM. Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child. Cytogenet Genome Res. 2005;111(2):175-8. PMID: 16103661

- Kocks A, Endele S, Heller R, Schroder B, Schafer HJ, Stadtler C, Makrigeorgi-Butera M, Winterpacht A. Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. J Med Genet. 2002 May;39(5):E23. PMID: 12011164

- Hou JW, Wang TR. Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4. J Med Genet. 1996 Oct;33(10):879-81. PMID: 8933346

- Sherer DM, Shah YG, Wang N, Metlay LA, Woods JR Jr. Prenatal diagnosis and subsequent management of a fetus with a 46XY r(4)(p15-q35) karyotype. Am J Perinatol. 1991 Jan;8(1):53-5. PMID: 1987971