13q-/r(13) mosaicism.
نویسندگان
چکیده
منابع مشابه
The 13q- deletion syndrome.
Since 1963 intermittent reports have appeared which indicated that deletion of a D chromosome, with or without ring formation, could be associated with various congenital malformations (Bain and Gauld, 1963; Lele, Penrose, and Stallard, 1963; Thompson and Lyons, 1965; Jacobsen, 1966; van Kempen, 1966; Bloom, Gerald, and Reisman, 1967, Gerald et al, 1967; Juberg et al, 1969; Laurent et al, 1967;...
متن کامل13q deletions in lymphoid malignancies.
Previous studies have indicated that a candidate tumor suppressor gene resides telomeric of the RB1 gene at 13q14, a region that is commonly deleted in B-cell chronic lymphocytic leukemia (B-CLL). In this study, we have evaluated the frequency and minimal region of overlap for 13q deletions in malignant cells from various lymphoid neoplasms. We observed losses at 13q14 in 33/75 (44%) B-CLL case...
متن کاملdel(13q) in myeloid malignancies
Note Chromosomal deletions are among the most common genetic events observed in hematologic malignancies; loss of genetic materiel is regarded as a hallmark of putative tumor suppressor gene localization. Deletions 13q occurs in lymphoid neoplasias: see del(13q) in non-Hodgkin's lymphoma and del(13q) in chronic lymphoproliferative diseases. In myeloid disorders, the most frequently reported del...
متن کاملChromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia canthorum. WS1 is always caused by mutations in the PAX3 gene, whereas WS2 is caused by mutations in the microphthalmia (MITF) gene in some but not...
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1980
ISSN: 1468-6244
DOI: 10.1136/jmg.17.4.316