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Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p‐, 5p‐, 11q‐, 18p‐, and 18q‐). It focuses on the...
Disorders resulting from 5p deletions (5p−) were first recognized by Lejeune et al. in 1963 (Lejeune et al. (1963); C R Hebd Seances Acad Sci 257:3098–3102). 5p− is caused by partial or total deletion of the short arm of chromosome 5. The most recognizable phenotype is characterized by a...
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes...
Since 4p‐ was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are working to delineate the phenotypic...
In 1973, the Danish geneticist Petrea Jacobsen described a three‐generation family in which the proband carried a presumed terminal deletion at the end of the long arm of chromosome 11 (11q). This patient had dysmorphic features, congenital heart disease, and intellectual disability. Since Dr....
Since 18p‐ was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the...
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