Detection of monoclonal IGH rearrangements in circulating cells from healthy first-degree relatives of patients with multiple myeloma.

Multiple myeloma (MM) is characterized by abnormal proliferation of clonal plasma cells or monoclonal plasmacytosis, resulting in accumulation of clonal immunoglobulins. Monoclonal gammopathy of unknown significance (MGUS) is considered a premorbid stage for developing MM. Studies have shown an increased risk of MGUS in first-degree relatives of patients with MM.

Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.

We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).

47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

Objective: To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype.

Design: Case report.

Setting: División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social.

Detection of clonal immunoglobulin and T-cell receptor gene recombination in hematological malignancies: monitoring minimal residual disease.

A considerable number of studies on hematological malignancies have recently demonstrated that the identification of rearrangements in immunoglobulin (Ig) and T-cell receptor (TCR) genes are important tools for diagnosis and follow-up of B- and T-cell disorders. The heterogeneity of these malignancies makes it difficult to carry out a precise assessment in all patients despite well-established morphological and immunophenotyping criteria. Clonal analysis of hematological malignancies is supported by the fact that all malignant cells have a common clonal origin with identically rearranged Ig and/or TCR genes.

Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.

Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive syndrome related to BUB1B gene mutations and characterized by multiple mosaic aneuploidies, cancer predisposition, and a distinct phenotype. We report on two mildly affected sibs with MVA syndrome but without BUB1B mutation. Both patients exhibited growth retardation, frontal bossing, triangular face and micrognathia but not microcephaly or cancer.