Gene deletion and duplication effects on phenotype and gamma globulin levels.

Familial mental retardation in a family with an inherited chromosome rearrangement

“…These observations suggest that a high TRC and a high number of whorls are at least partially independent of each other, contrary to the view of Parker et al (1972). Abnormal dermatoglyphics have been reported in other individuals with rearrangements involving chromosome 18 (Valdmanis et al, 1967;Hoehn, Sander, and Sander, 1971;Jacobsen et al, 1971;Rudd and LaMarche, 1971;Lurie and Lazjuk, 1972;Parker et al, 1972;Gouw et al, 1973). In particular others have reported an increase in whorls or complex patterns in the 18q -syndrome (Valdmanis et al, 1967;Hoehn et al, 1971;Jacobsen et al, 1971).…”

“…There have been several reports of the absence of serum IgA in patients with an 18q -or an 18r. This had led to the suggestion that the long arm of chromosome 18 may be involved in the control of IgA synthesis (Feingold et al, 1969;Finley et al, 1969;Masterson and Law, 1969;Stewart et al, 1970;Rudd and LaMarche, 1971). The finding of normal or raised IgA levels in three patients carrying the der(18) (11.4, II.5, 11.6) and one subject with a balanced karyotype (II.9) neither supports nor refutes this hypothesis, but simply suggests that 'the IgA centre' if present on chromosome 18, does not lie in the (18)(ql1q21) region.…”

Immunoglobulin abnormality in a girl with a large chromosome 18.

“…Hecht (1969), however, reported a case of 19 trisomy syndrome associated with decreased serum IgA and IgM. Rudd and LaMarche (1971) described a high level of IgA in the partial trisomy of chromosome 18. Jensen et al (1969) described an increased IgM associated with a ring chromosome 18; on the other hand, Haddad et al (1969) reported a striking deficiency of IgM in a patient with partial deletion of the long arm of chromosome 18.…”

Partial 18 trisomy syndrome resulting from paternal 6/18 reciprocal translocation

“…One type is accompanied by typical features of 18 trisomy such as a prominent occiput, clenched fists with overlapping fingers, a narrow pelvis and rocker bottom feet (Hecht et al, 1963;Rohde et al, 1963;Gagnon et al, 1963;Uchida et al, 1964~ Freiman andWilton, 1967;Meyer-Robisch and Schwanitz, 1967;Gleissner et al, 1970;Chesler et al, 1970;E?iksson et al, 1971;Cohen et al, 1972;Goto et al, J 1973). The other type is not accompanied by them (Van Wijk et al, 1961;Brodie and Dallaire, 1962;Valdmanis et al, 1967;Rudd and Lamarche, 1971;Orye and Van Caster, 1972;Jenkins etlal., 1974). Recent banding techniques have enabled us to identify the trisomic par i of each case.…”