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An Adolescent Girl With Severe Mental Impairment
A De Novo Translocation 14q21q With a Microchromosome14p21p Dvorah Abeliovich
A Model for Hereditary
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3rd centile abnormalities acid activity Address reprint requests affected sibs Alan Alberta Alberta Children's Hospital amniocentesis amyloidosis analysis anomalies autosomal dominant autosomal recessive BDLS bilateral biochemical birth bone cells centromere Children's Hospital chromosome Clin congenital consanguinity cystic fibrosis cystinuria cytogenetic defect deficiency deletion described disease disorder distal dysplasia Edited by John enzyme examination fetal fetus fingers gene granules growth heterozygotes hormone Hum Genet Hutterite hypophosphatasia hypoplasia hypoplastic individuals infants James F Lange syndrome Liss lissencephaly males malformations McKusick Medical Genetics mental retardation metabolic microcephaly mild mother mucopolysaccharidosis muscle muscular dystrophy neural normal observed Opitz and James parents patients Pediatr phalanges phenotype population pregnancy prenatal diagnosis present proband proposita propositus radiographs Received for publication requests to Dr revision received serum short showed sibship studies syndactyly Table tissue translocation trisomy University urinary Zellweger Zellweger syndrome