论文信息 - Prenatal diagnosis of a trisomy 17p derived from a de novo non‐mosaic satellited marker

Prenatal diagnosis of a trisomy 17p derived from a de novo non‐mosaic satellited marker

A trisomy 17pter→p11.2 derived from a supernumerary de novo satellited marker was identified by GTG bands and fluorescent in situ hybridisation (FISH) in amniocytes of a fetus with malformations and intrauterine growth retardation (IUGR). At 39 weeks a male infant with a phenotype similar to other postnatal cases of ‘pure.’ complete trisomy 17p was born. Some additional clinical features, however, make him more severely affected than previous patients.

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