Here we describe mixoploidy in a newborn triplet female. In order to learn more about the underlying mechanism resulting in mixoploidy, we studied the parental origin of the extra haploid chromosome complement using highly informative short tandem repeat polymorphisms (STRPs).
Case reportThe proband was the third of female triplets born at 35 weeks of gestation weighing 1580 g to a 31 year old gravida 2 para 1 white woman. The pregnancy was induced by clomiphene because of a previous history of infertility. Serial prenatal ultrasonography showed cerebral ventriculomegaly in this fetus, but no other abnormalities. Each triplet had a separate gestational sac and placenta. Delivery was performed by a caesarian section. The family history was unremarkable. The two other triplets were not dysmorphic.The proband was small for gestational age and manifested several dysmorphic features. Craniofacial findings included a broad forehead, frontal alopecia, small anterior and posterior fontanelles, a short upturned nose with depressed nasal bridge, incomplete helical folds, and micrognathia ( fig 1A). The upper extremities showed bilateral camptodactyly with digitalised thumbs, incomplete palmar creases, and cutaneous syndactyly of the left third and fourth fingers (fig iB). The big toes were short bilaterally, and a leg length discrepancy of 1 cm was present. The infant was diffusely hypotonic.Echocardiography showed no abnormalities. Abdominal ultrasonography showed prominent renal lobar architecture bilaterally, but no hydronephrosis. Cranial ultrasonography indicated agenesis of the corpus callosum and mild bilateral ventriculomegaly, findings confirmed by cranial CT. An electroencephalogram was normal, as was an ophthalmological examination. Brainstem auditory evoked responses showed moderate bilateral sensorineural hearing loss.During infancy, the infant developed intractable myoclonic seizures requiring anticonvulsant therapy. Her development progressed initially, but regressed globally after the onset of seizures. She developed precocious puberty with the onset of menarche at the age of 6 months, associated with raised FH and LH levels. Repeat brainstem auditory evoked responses showed moderate sensorineural hear-
We report a reciprocal translocation between the long arms of chromosomes 12 and 21, t(12;21)(q13;q22), in a patient with primary cutaneous follicle center lymphoma. Follicle center lymphoma of the skin and follicle center cell lymphoma of the lymph node are morphologically and immunophenotypically very similar. However, the clinical behavior and prognosis of these tumors are different due to the molecular basis of these malignancies. Follicle center cell lymphoma of the lymph node is determined by the presence of a unique translocation between chromosomes 14 and 18, t(14;18)(q32;q21), BCL-2-JH gene rearrangement, that is not present in primary cutaneous follicle center lymphomas. Chromosomal translocations in the primary skin lymphomas have not been previously reported. We hope that our discovery of a new translocation t(12:21)(q13q22) will encourage further investigation into the molecular basis of this translocation and other cytogenetic abnormalities in primary cutaneous B-cell lymphomas. Am. J. Hematol. 81:448-453, 2006. V V C 2006 Wiley-Liss, Inc.
Cells isolated from four patients with prolymphocytic leukemia were evaluated by surface markers, cytogenetics, and flow microfluorometric analysis of cell size and DNA content. All four patients had B-cell markers with a high density of IgM, kappa type, and Ia-like antigen. Less intense staining for surface IgD was also observed. In each patient studied, chromosomal modes were in the hypodiploid or near-diploid range. Despite the karyotypic abnormalities, the cellular DNA content, as determined by flow microfluorometry, was within the normal limits in all cases. This suggests that the variability in chromosome numbers seen in these patients may reflect an abnormality in DNA package rather than differences in total DNA content. The modal electronic cell size of the prolymphocytes, determined by light scatter, was readily distinguishable from that of normal peripheral blood lymphocytes and the lymphocytes of chronic lymphocytic leukemia. Fewer than 4% of the peripheral prolymphocytes had S-phase DNA content, a finding consistent with the chronic nature of this leukemia.
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