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Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

1 Jan 2016

Abstract excerpt

A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously...

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Share to Congenital Anomalies and Fetal Surgery
Share to Genomic variations and chromosomal abnormalities
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PMID: 27610251
DOI: 10.1155/2016/4645716

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