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We report on a child with apparent Sotos syndrome (cerebral gigantism) and partial duplication of the short arm of chromosome 20 mosaicism. Trisomy 20p11.2‐p12.1 was diagnosed using cytogenetic and FISH studies. The somatostatin receptor 4 (SSTR4) gene is included in the duplicated segment....
In this paper, we intend to study the oldest systematic descriptions of birth malformations in the history of medicine, as they appear in cuneiform texts written four millennia ago in the land between the two rivers, Mesopotamia, the cradle of civilization, the land of Assyro‐Babylonian...
Phenotypic variability in children with Prader‐Willi syndrome (PWS) was investigated with respect to variable expression of the contiguous gene syndrome and trait variance. In a prospective study, parent/child resemblance of anthropometric and psychometric measures was analyzed in 22 children...
In an effort to delineate more homogeneous autism subgroups for genetic study, we evaluated 133 consecutive individuals referred to the University of Missouri Autism Center. Each index case underwent a diagnostic evaluation, including a clinical morphology examination, laboratory studies, brain...
Over 90% of patients with DiGeorge syndrome (DGS) or velocardiofacial syndrome (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult to visualize at the light microscopic level, fluorescence in situ hybridization (FISH) has been instrumental in the diagnosis of this...
Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb‐Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the...
We report on a mother and daughter both with a 45,X/46,X,r(X)(p22.3q28) karyotype and mental retardation. Fluorescence in situ hybridization (FISH) and microsatellite analyses for 14 loci/region at Xp22.3 and seven loci/region at Xq28 indicated that the ring X chromosome was missing a roughly...
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