A five-step purification procedure involving concentration, chromatography on DEAE-
cellulose, Sephadex G-200 concanavalin A/Sepharose and gradient gel electrophoresis has …

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 …

Providing clinically relevant prognoses and treatment information for people with a
chromsome18q deletion is particularly challenging because every unrelated person has a …

Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case
series and reports. Findings reported in more than 25% of these cases include neonatal …

One of our primary goals is to help families who have a child with an 18q deletion anticipate
medical issues in order to optimize their child's medical care. To this end we have narrowed …

The advent of oligonucleotide array comparative genomic hybridization (aCGH) has
revolutionized diagnosis of chromosome abnormalities in the genetics clinic. This new …

Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated
expression in somatic cells of the normally repressed DUX4 gene within the D4Z4‐repeat …

Most deletions of the long arm of chromosome 18 involve some part of the most distal 30 Mb.
We have identified five individuals with cytogenetically diagnosed interstitial deletions that …

Although constitutional chromosome abnormalities have been recognized since the 1960s,
clinical characterization and development of treatment options have been hampered by their …

Deletions of the short arm of chromosome 18 have been well‐described in case reports.
However, the utility of these descriptions in clinical practice is limited by varied and …