Autosomal deletion syndrome 46,XX,18p-: a new case report with absence of IgA in serum.

Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.

“…Discussion Low intelligence, small stature, poor muscular tone, carp mouth, midfacial hypoplasia, and internal strabismus are all features of this patient which have been reported in other cases of the Eq-syndrome (de Grouchy et al, 1964;Lejeune et al, 1966;Wertelecki, Schindler, and Gerald, 1966;Insley, 1967;Nance et al, 1968 previously (Stewart et al, 1968;Feingold et al, 1969). It has also been found in cases with a ring E chromosome (Finley et al, 1968) and even in patients with a deletion from the short arm of the chromosome (Daentle and Smith, 1968;Fischer et al, 1970). These cases were all children and values for IgA levels in normal children are lower than in adults (Hobbs, 1970).…”

“…Her fingers, however, are short rather than long and tapered, and show a complete absence of whorl patterns (cf, Wertelecki et previously (Stewart et al, 1968;Feingold et al, 1969). It has also been found in cases with a ring E chromosome (Finley et al, 1968) and even in patients with a deletion from the short arm of the chromosome (Daentle and Smith, 1968;Fischer et al, 1970). These cases were all children and values for IgA levels in normal children are lower than in adults (Hobbs, 1970).…”

Genetic aspects of selective immunoglobulin A deficiency.

“…(3) The incidence is increased in chromosomal abnormalities such as partial deletion of the long or the short arm of chromosome 18 (Masterson and Law, 1969;Fischer et al, 1970;Jansch, May, and LaMarche, 1970;Stewart et al, 1970), ring formation 18 (Feingold et al, 1968;Peterson and Good, 1968;Murken, Salzer, and , trisomy 18 (Hecht, 1969), and heritable fragile site on chromosome 16 (Magenis, Hecht, and Lovrien, 1970 higher in patients with ataxia telangiectasia than in normal individuals (Eidelman and Davis, 1968;Peterson and Good, 1968 In several respects the IgA deficiency shows similarities to the aetiology of cleft lip and palate for which originally autosomal dominant, autosomal recessive and sex-linked modes of inheritance were postulated but where now a polygenic predisposition to the defect has been accepted as the most likely genetic mechanism to explain the occurrence of a familial tendency (Fraser, 1970). In chromosomal abnormalities the incidence of cleft lip and palate is also increased.…”

“…(3) The incidence is increased in chromosomal abnormalities such as partial deletion of the long or the short arm of chromosome 18 (Masterson and Law, 1969;Fischer et al, 1970;Jansch, May, and LaMarche, 1970;Stewart et al, 1970), ring formation 18 (Feingold et al, 1968;Peterson and Good, 1968;Murken, Salzer, and Kunze, 1970), trisomy 18 (Hecht, 1969), and heritable fragile site on chromosome 16 (Magenis, Hecht, and Lovrien, 1970 higher in patients with ataxia telangiectasia than in normal individuals (Eidelman and Davis, 1968;Peterson and Good, 1968). The frequent occurrence of sporadic cases and the lack of any uniform pattern for the familial cases indicate that no simple mode of inheritance can account for IgA deficiency.…”

DELETION OF SHORT ARM OF CHROMOSOME 18 WITH NORMAL LEVELS OF IgA

“…Apart from physical malformations and the mental retardation, up to date a description has been given ofthe absence of IgA in serum and/or saliva in three cases of deletion ofthe short arms (D. Daentele and D. Smith, 1968;personal communication to Stewart et al, 1968;Ruvacalba and Thuline, 1969;and Fischer et al^ 1970), in four cases of deletion ofthe long arms (Stewart et al, 1968;Feingold et al, 1970) and in two, of chromosome 18 in ring form (Finley, ei a!., 1968;.…”