A case of Roberts syndrome described in 1737

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Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report

A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

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roberts-sc phocomelia syndrome (pseudothalidomide syndrome): a case report.

a 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. she had consanguinity with her husband. a female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. the disease locus was assigned to chromosome17q21. four days later, infant died of cardiopulmonary arrest.

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Roberts syndrome

All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and hu...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2001

ISSN: 1468-6244

DOI: 10.1136/jmg.38.8.565