An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.

The t(14;18)(q32;q21) chromosomal translocation is closely associated with follicular lymphoma. Polymerase chain reaction (PCR) analysis has high sensitivity and is used to assess responses to therapy. Quantification of translocation-bearing cells is a possible advantage of real-time PCR over conventional PCR. A collaborative study comparing results from 12 international laboratories is reported.

A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.

BACKGROUND Asthma is a heterogeneous disease in which age of onset plays an important role. OBJECTIVE We sought to identify the genetic variants associated with time to asthma onset (TAO). METHODS We conducted a large-scale meta-analysis of 9 genome-wide association studies of TAO (total of 5462 asthmatic patients with a broad range of age of asthma onset and 8424 control subjects of Europe...

BACKGROUND Mucosa-associated lymphoid tissue lymphoma (MALT lymphoma) of the lung is a relatively rare disease. As little is known about the natural clinical course if left untreated, all patients undergoing a watch-and-wait policy at our institution were investigated. PATIENTS AND METHODS A retrospective analysis identified a total of 11 patients with MALT lymphoma of the lung who did not un...

Extranodal lymphomas of the mucosa-associated lymphoid tissue (MALT) account for approximately 8% of all non-Hodgkin’s lymphomas and comprises up to 50% of primary gastric lymphomas, however they can arise in virtually any extranodal site.1-3 Their histologic features are similar regardless of the site of origin.4 MALT lymphoma usually arises in mucosal sites where lymphocytes are not normally ...

Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of disorders characterized by weakness and wasting of distal limb muscles without overt sensory abnormalities. Recently, autosomal dominant dHMN has been mapped to chromosome 12q24 and 7q11-q21. We present a family with autosomal dominant adult onset dHMN type II consisting of fi ve affected individuals spanning three generation...