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10.1002/ajmg.1320450307.abs A series of earlier reports has described the velo‐cardio‐facial syndrome (VCFS), a syndrome of multiple anomalies including cleft palate, heart malformations, facial characteristics, and learning disabilities. The patients reported previously were primarily...
10.1002/ajmg.1320450306.abs The velo‐carido‐facial syndrome (VCFS) and DiGeorge sequence (DGS) have many similar phenotypic characteristics, suggesting that in some cases they share a common cause. DGS is known to be associated with monosomy for a region of chromosome 22q11, and DNA probes...
10.1002/ajmg.1320450309.abs Barth syndrome is an X‐linked disorder characterised by cardioskeletal myopathy of variable severity usually fatal in childhood, and neutropenia. We ascertained a large pedigree with affected males in 3 generations. All affected males had dilated cardiomyopathy, with...
10.1002/ajmg.1320450315.abs In 1975 Say et al. (Humangenetik 26:267–269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13‐month‐old girl with cleft palate, short...
10.1002/ajmg.1320450312.abs We have studied a family with an autosomal dominant form of multiple epiphyseal dysplasia (MED) inherited through at least 5 generations. Bilateral deformity of the hips with subsequent degenerative arthritis was the most common and most severe change observed in the...
10.1002/ajmg.1320450304.abs We report on a girl born with phocomelia of both lower limbs, with 3‐toed feet and partial sacral agenesis. She had normal growth of the upper limbs and trunk, and normal intelligence. Ultrasound study performed during the subsequent pregnancy documented a large...
10.1002/ajmg.1320450330.abs Recently an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age‐of‐onset/severity of DM shows a good correlation with CTG repeat size, and pedigrees and...
10.1002/ajmg.1320450305.abs Seven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant inheritance with complete penetrance is characteristic of the 7 familial instances. Variable...
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