Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.
Authors:
- T R WangTWT R Wang
Open Access
- 1 October 1996
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (10) , 879-881
Abstract
We report a female baby with multiple congenital anomalies including left upper amelia, congenital short bowel with malrotation and pseudo-obstruction, dextrocardia with situs solitus, patent ductus arteriosus, and a tiny atrophic spleen. Chromosome study showed de novo 46,XX/46,XX,-4, + r(4)(p16-->q22.3)/47,XX,4, + r(4) (p16-->q22.3), + del(4)(pter-->q22.3:). The clinical findings in the patient were probably caused by the interaction of partial trisomy 4pter-->q22.3 or 4p16-->q22.3 and partial monosomy of 4q22.3-->4qter. This karyotype and phenotype have not previously been reported.Keywords
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