A ring 14 chromosome with deleted short arm.

作者: A. P. Amarose , Elizabeth Dorus , P. R. Huttenlocher , Sonia Csaszar

DOI: 10.1007/BF00278962

关键词: ChromosomeHuman geneticsBiologyCraniofacialRing (chemistry)AnatomyMetabolic diseaseKaryotypeGeneticsDevelopmental retardationSeizure Disorders

摘要: We report a 46,XX,r(14) karyotype in female infant having craniofacial dysmorphology, seizure disorder, and developmental retardation.

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