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10.1002/ajmg.1320490317.abs Spondylothoracic dysostosis, or Jarcho‐Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group of rare disorders characterized by short‐neck, short‐trunk dwarfism and multiple vertebral anomalies at all levels of the vertebral...
10.1002/ajmg.1320490307.abs Tricho‐rhino‐phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant...
10.1002/ajmg.1320490312.abs A survey instrument is used to assess temperature regulation characteristics in children with Prader‐Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well...
10.1002/ajmg.1320490302.abs Colobomatous microphthalmia was studied in multiple relatives of 5 families. In these families, the disorder was an autosomal recessive trait as opposed to the usual autosomal dominant form of the disorder. A relatively high incidence of this recessive allele is found...
10.1002/ajmg.1320490333.abs Robertsonian translocations between acrocentric chromosomes are the most common structural chromosomal rearrangements in humans and many other organisms, and several mechanisms for their formation have been proposed. We have analyzed highly informative DNA...
10.1002/ajmg.1320490310.abs We report on a 4‐year‐old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial...
10.1002/ajmg.1320490315.abs Because of genetic heterogeneity and ambiguity of test results, only rarely will carrier screening identify all carriers of a given autosomal recessive disorder. However, the fraction of carriers identified by the test can be estimated in a case frequency study. The...
10.1002/ajmg.1320490313.abs We have investigated a mother and son of South African Xhosa stock who presented with short‐trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence...
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