论文信息 - The Association of Ring Chromosome 13 and Duodenal Obstruction

The Association of Ring Chromosome 13 and Duodenal Obstruction

The antenatal diagnosis of ring chromosome 13 was made in a fetus at 30 weeks gestation. The pregnancy had progressed normally until this time, when polyhydramnios was suspected, and sonography demonstrated polyhydramnios, a growth delay of 4 weeks, and a double bubble sign, indicating duodenal obstruction or atresia. Cordocentesis was performed, and the karyotype was remarkable for a ring chromosome 13 in all fetal cells examined. Ring chromosome 13 is a rare chromosomal abnormality, usually associated with intrauterine growth delay and neural, cardiac, and renal malformations, but generally not associated with duodenal obstruction.

W. Watson | R. Cefalo | V. Katz

[1] J. Pearn,et al. The ring chromosome 13 syndrome , 2004, Human Genetics.

[2] Francis S. Collins,et al. Current concepts in genetics: principles of medical genetics (second of two parts). , 1976 .

[3] J. Hobbins,et al. Prenatal Diagnosis of Duodenal Atresia: Does It Make Any Difference? , 1988, Obstetrics and gynecology.

[4] R. Magenis,et al. Fetal karyotype following ascertainment of fetal anomalies by ultrasound , 1987, Prenatal diagnosis.

[5] M. Abu-Yousef,et al. Abnormal Pregnancy Sonogram: Selective Indication for Fetal Karyotype , 1987, Obstetrics and gynecology.

[6] C. Curry,et al. De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. , 1982, Journal of medical genetics.

[7] E. Fonkalsrud,et al. Congenital atresia and stenosis of the duodenum. A review compiled from the members of the Surgical Section of the American Academy of Pediatrics. , 1969, Pediatrics.