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#