LOW IgA ASSOCIATED WITH SHORT ARM DELETION OF CHROMOSOME 1 8

A one-year-old boy with the short arm deletion of chromosome 18 is reported. The case has IgA deficiency and facial dysmorphism. Chromosome analysis showed that his father had 32% premature centromere division (PCD). The deletion of short arm of chromosome 18 in our case may have occurred because of PCD in the father. Our case might be an important example for concurrent appearance of these chromosomal abnormalities.Key Words: Chromosome 18, Chromosome 18p deletion, IgA deficiency, Premature centromere division

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de Grouchy J, I a my M, Thieffry S, Arthuis M, Salmon
C. Dysmorphie complexe avec oligophrénie: deletion du bras court dun chromosome 18. CR Acad Sci (Paris) 1963;256:1028-1029.
Emery AEtl. Principles and practice of medical genetics. Second Edition. Edinburgh: Longman Group UK Ltd 1990:265-266.
Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Hew York: Berlin de Gruyter, 1984:300-304.
Lewkonia RM, Lin CC, flaslam RUA. Selective IgA deficiency with 18q+and 18q- karyotypic anomalies. J Med Genet 1980;17:436-453.
Lakhanpal S, O Duffy JD, flomburger LIA, Moore SB. Evidence for linkage of IgA deficiency with the major histocompability complex. Mayo Clin Proc 1988;63:461-465.
ib ra h im K e s e r, e t a l
de Grouchy J, Turleau C. Atlas des maladies chromosomiques. Paris: Expansion Scientifique Française 1982:310-315.
Choudat D, Taillemite JL. Hirch-Marie fl, Choubrac P, Lebas FX. Relation entre iscohromosome Xq et deficit serique en immunoglobine A. nouvelle Presse Pied 1979;8:2419-2426.
Silver flKB, Shuster J, Gold P, flawkins D, Freedman SO. Endocrinopathy and IgA deficiency. Clin Immunol Immunopathol 1973;1:212-214.
Tiepolo L, Marashio P, Gimeli G, Cuoco C, Gargani GF, Romano C. Multibranched chromosomes 1,9 and 16 in a patient with combined IgA deficiency. Hum Genet 1979;51:127-139.
Leisti J, Leisti S, Perheentupa J. Savilahti E, Aula P. Absence of IgA and growth hormone deficiency associated with with a short arm deletion of chromosome 18. Arch Dis Child 1973;48:320-322.
Gül D, Sayh BS, Gôk F, Gôkçay E. IgA deficiency associated with growth hormone deficiency in a boy
with shortarm deletion of chromosome 18(46,XY,18p->. Ann Genet 1994;37:82-85.
Kane HA, Borgaonkar D, McDermott M, Septimus S, Movahhedian H. 18p monosomy syndrome. Pediatr Cadiol 1991;12:133-146.
Taine L, Goizet C, Wen ZQ Chateil JF, Battin J, Saura R, Lacombe D. 18p monosomy with midline defect and a de novo satellite identified by FISH. Ann Genet 1997;40:153-163.
Bajnoczky K, Mehes K. Parental centromere separation sequence and aneuploidy in the off spring. Hum Genet 1988;78:286-288.
Gaborron J, Jimenez A, Glover G. Premature centromere division dominant inherited in a subfertilite family. Cytogenet Cell Genet 1986;43:69-71.
Keser I. Lüleci G, Gündüz G. Premature centromere division in three unrelated families. Ann Genet
;39:87-90.