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10.1002/ajmg.1320490118.abs We report on a newborn infant with clinical and radiological manifestations of some type of short rib‐polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric...
10.1002/ajmg.1320490121.abs We report on a case of ring chromosome 5 in a 36‐month‐old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed...
10.1002/ajmg.1320490115.abs Fourteen families of children with infantile nephropathic cystinosis were evaluated using the Standford‐Binet Intelligence Scale, Fourth Edition (Thorndike et al., 1986: Stanford‐Binet Intelligence Scale, Fourth Ed.). The IQs of 15 children with cystinosis, their...
10.1002/ajmg.1320490112.abs Duplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The...
10.1002/ajmg.1320490108.abs Starting from a data base of over one million births investigated in 11 countries as a part of the Latin American Study of Congenital Malformations, 1,428 babies with three or more malformations without known pathogenesis or cause were studied. The objective was to...
10.1002/ajmg.1320490109.abs Opitz has defined developmental field defects (DFD) as “any dysmorphogenetically reactive unit of the developing organism that leads to final structure.” We have incorporated in our coding system specific codes to identify individual DFDs in each child,...
10.1002/ajmg.1320490104.abs Rare genetic diseases have been reported with high frequency in some populations. The mechanisms which were proposed to explain most of these observations include founder effect, genetic drift or selective advantage. In recent years, many genes have been sequenced and...
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