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10.1002/ajmg.1320420307.abs We present a 3‐generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and...
10.1002/ajmg.1320420322.abs The French‐Canadian population in the Saguenay‐Lac St. Jean region of northeastern Quebec has an elevated frequency of cystic fibrosis (CF). The average incidence of cystic fibrosis was 1 in 891 births and the prevalence of CF carriers was estimated to be 1 in 15....
10.1002/ajmg.1320420325.abs A new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17–23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small...
10.1002/ajmg.1320420305.abs We present 3 patients with a specific pattern of congenital familial extensive vertebral anomalies (CFEVA) with vertebral and carpal coalition. It is proposed that these patients and two previously reported cases have a vertebral disorder akin to symphalangism in the...
10.1002/ajmg.1320420312.abs We report on 2 sibs with the Klein–Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein–Waardenburg...
10.1002/ajmg.1320420306.abs A child with a 7q + chromosome abnormality had a father with 0.5% mosaicism for a balanced 7;14 translocation. This mosaicism was not found in 100 fibroblasts. This degree of mosaicism is well below the limits usually detected by standard clinical cytogenetic...
10.1002/ajmg.1320420304.abs Duchenne muscular dystrophy (DMD) results from mutations in the X‐linked gene coding for the muscular protein dystrophin. The isolation of genomic and cDNA probes for this gene has greatly facilitated the detection of DMD carriers, which previously relied mainly on...
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