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

Sabater, Juan R.; Antich, J; Lluch, M; Pulgar, J Pérez del

doi:10.1111/j.1365-2788.1972.tb01581.x

Cited by 4 publications

(1 citation statement)

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“…18 and pointed out that some of the patients have had severe malformations of the central nervous system although most have had milder and more nonspecific findings including mental retardation, short stature, and minor physical anomalies. Subsequently, at least five other cases have been reported (Weiss & Mayeda 1969, Laurent et al 1970, Vaillaud et al 1970, Moric-Petrovic et al 1971, Sabater et al 1971). The age range at the time of diagnosis of the syndrome has varied from the neonatal period to adulthood.…”

Section: Discussionmentioning

confidence: 96%

Rheumatoid arthritis in the 46, XX, 18p‐ syndrome

Finley

Johnson

et al. 1972

Clinical Genetics

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Some of the evidence suggesting a relationship between autoimmunity and chromosomal aberrations is reviewed and an example which may support such a relationship is presented. The propositus was a 5‐year‐old Caucasian female who had juvenile rheumatoid arthritis and a deletion of the short arm of a chromosome 18 (46, XX, 18p‐). Her serum IKA was normal, although IgA deficiency has been reported in a significant number of patients having an 18 deletion syndrome as well as in patients having rheumatoid arthritis. This patient focuses attention on the presently unresolved problem of the association between autoimmune disease and chromosomal aberrations.

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Section: Discussionmentioning

confidence: 96%

Rheumatoid arthritis in the 46, XX, 18p‐ syndrome

Finley

Johnson

et al. 1972

Clinical Genetics

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The 18 p- syndrome

1976

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Four children, two girls and two boys, were found to have a short arm deletion of chromosome No. 18. Three of them exhibit a typical dysmorphy of the face showing retraction of the midface, broad-based, flat nose, hypertelorism, epicanthus, "carp mouth", big, protruding, and low set ears, as well as a variable number of Turner-like features, failure of growth, mental retardation, and muscular hypotonia. A newly born child, who died at 2 days of age exhibited severe brain defects of holoprosencephalic series. The clinical and cytogenetic findings are compared with the reviewed data of the 18 p deletion. The hypothesis of "gene-dosis compensation" is discussed in order to explain the variable phenotypical expression of 18 p-syndrome as there is obviously to correlation between the extent of the deficiency and the expression of malformations.

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Clinical Manifestations of Chromosome Disorders

Gorlin¹

1974

Human Chromosome Methodology

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

Cited by 4 publications

References 12 publications

Rheumatoid arthritis in the 46, XX, 18p‐ syndrome

Rheumatoid arthritis in the 46, XX, 18p‐ syndrome

The 18 p- syndrome

Clinical Manifestations of Chromosome Disorders

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