Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of 18p deletion and isochromosome 18q mosaicism in a fetus with a cystic hygroma.
Although, deletion of short arm of chromosome 18 is one of the most frequent autosomal terminal deletions, mosaic form of 18p deletion is infrequently observed. Furthermore, prenatally detected cases of 18p deletion and isochromosome 18q mosaicism are extremely rare. Herein, we present a case of del(18p)/i(18q) mosaicism, prenatally detected after chori- onic villus sampling. A 37-year-old woma...
متن کاملPrenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly.
OBJECTIVE To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). MATERIALS, METHODS, AND RESULTS A 32-year-old woman was referred for genetic counseling of prenatally detected isochromosome 18q [i(18q)]. She had undergone amniocentesis at 19 gestational weeks because of a trisomy 18 risk of...
متن کاملRheumatoid arthritis in an adult patient with mosaic distal 18q-,
Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18pand distal 18qsyndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arth...
متن کاملPrenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.
A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects o...
متن کاملAutosomal Deletion Syndrome 46 , XX , 18 p - : A new case report with absence of IgA in serum PATRICIA
Twenty-one cases of presumptive deletion of the short arm of a No. 18 chromosome were recently reviewed by Reinwein et al. (1968) together with a new case from their own material. Five additional reports describing 6 cases have since been published (Grouchy, Rossier, and Joab, 1967; Gilgenkrantz, Marchal, and Neimann, 1968; Gorlin, Yunis, and Anderson, 1968; McDermott et al., 1968; Jacobsen and...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 9 1 شماره
صفحات -
تاریخ انتشار 1972