Dataset Information

Climbing the branches of a family tree: diagnosis of fragile X syndrome.

ABSTRACT: To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS).We reviewed pedigrees of families who had been evaluated at the Fragile X Syndrome Center at Emory University in Atlanta, Georgia. Through these pedigrees, we determined the number of additional family members diagnosed as FMR1 premutation carriers or with full mutation FXS after the initial diagnosis in each proband.The fragile X pedigree review identified 176 probands, including 108 males (61%) and 68 females (39%). A total of 785 family members were diagnosed with expanded fragile X alleles, including 278 males (35%) and 507 females (65%). These family members included 227 individuals with full mutation FXS (219 males and 8 females) and 558 premutation carriers (59 males and 499 females). After the initial diagnosis of a proband with FXS, on average at least 5 additional family members were diagnosed with an FMR1 mutation.Our findings confirm that obtaining a detailed family history after diagnosis of a proband with FXS is likely to identify multiple family members with FMR1 mutations. It is important that the pediatrician or other health care provider making a diagnosis of FXS recognize the value of a detailed family history for timely diagnosis and treatment of additional individuals who may be FMR1 premutation carriers or have full mutation FXS.

SUBMITTER: Visootsak J

PROVIDER: S-EPMC4035419 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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Climbing the branches of a family tree: diagnosis of fragile X syndrome.

Visootsak Jeannie J Hipp Heather H Clark Heather H Berry-Kravis Elizabeth E Anderson Tovi T Laney Dawn D

The Journal of pediatrics 20140306 6

<h4>Objective</h4>To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 (FMR1) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS).<h4>Study design</h4>We reviewed pedigrees of families who had been evaluated at the Fragile X Syndrome Center at Emory University in Atlanta, Georgia. Through these pedigrees, we determined the number of additional family members diagnosed as FMR1 premutation carriers or with full mutation F ...[more]

PMID: 24612903

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Project description:Tree and shrub branches subjected to cantilever loads such as intercepted snowfall undergo, in addition to the familiar instantaneous elastic bending, a conspicuous retarded-elastic bending, which is commonly 30-50% of their instantaneous bending and occasionally even more. The resultant bending creep that occurs after loading also often includes a slow, time-dependent irreversible bending. These phenomena occur quite generally among woody plants of different major biomes, taxonomic groups, and structural types. We give some of branch bending viscoelasticity's basic physical properties such as load dependence and stress relaxation. These properties belong to the secondary walls of branches' xylem (wood) cells; some properties differ notably from those reported for primary cell walls, a difference for which we propose explanations. A method for separating the overlapping time courses of retarded-elastic and time-dependent irreversible bending shows that multiple retarded-elastic ("Kelvin") elements of branches span a wide range of retardation times (a retardation spectrum, approximate examples of which we calculate), and that irreversible bending can occur in different cases either only in the first few h after loading, or more extensively through 24 h, or (rarely) for several days. A separate time-independent irreversible bending, permanent set, involving a substantial yield stress, also occurs. In three species of shrubs rapid irreversible bending began only several (up to 24) h after loading, implying an unusual kind of viscoelasticity. Deductions from the dynamics of bending suggest that retarded elasticity can help protect branches against breakage by wind gusts during storms. Irreversible bending probably contributes both to the form that tree and shrub crowns develop over the long term, involving progressive increase in the downward curvature and/or inclination of branches, and also to certain other, more specialized, developmental changes.

Dataset Information

Climbing the branches of a family tree: diagnosis of fragile X syndrome.

Publications

Climbing the branches of a family tree: diagnosis of fragile X syndrome.

Similar Datasets

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