Ten children with abdominal neuroblastoma were included in the study. Biopsies from the neuroblastomas were taken during surgical operations, nine from the primary tumours and one from a metastasis. Histopathology was done for diagnosis. Chromosomal cultures of neuroblastoma cells and peripheral blood lymphocytes were performed. The peripheral blood lymphocytes revealed normal chromosomal complements. The 10 tumours were in the peridiploid range with random gains or losses of chromosomes. Deletion of the short arm of chromosome number 1 distal to band p31 occurred in 6 tumours. Other structural changes and giant markers were found. It was concluded that a regulatory gene controlling the transformation gene of neuroblastoma, is present at or distal to lp31. (+info)
Trigonocephaly and the Opitz C syndrome.
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We present 12 cases of trigonocephaly of which six were associated with other malformations. On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome. (+info)
A family with three independent autosomal translocations associated with 7q32----7qter syndrome.
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Two persons within the same family were discovered to be trisomic for the segment 7qter. However, several features differed from those described in other patients with this syndrome, for example, normal birth weight and neck size, cleft palate, and beaked nose. In addition to the phenotypic variation, there were three independently segregating autosomal translocations in the pedigree: t(1;7)(q43;q32), t(1;6) (p22.3;q14.1), and t(3;10)(q26.1;p11.21). This is a finding that, to our knowledge, has not been previously reported. (+info)
A complex balanced rearrangement involving four chromosomes in an azoospermic man.
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A complex chromosomal rearrangement involving chromosomes 1, 5, 10, and 12 is described. The patient was an infertile, phenotypically normal male. Cytogenetic analyses of his parents showed that the complex translocation arose de novo. Testicular histology showed spermatogenic arrest. (+info)
'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).
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This report describes a male infant with partial trisomy 2q: 46,Y,der(X),t(X;2) (p22.3;q32.1)mat. The phenotype was compatible with partial trisomy 2q syndrome. Replication studies showed a random X inactivation in the mother. Soluble isocitrate dehydrogenase (IDH-1) dosage was within the expected range for a trisomic patient and favours the assignment of this locus to the region 2q32----qter. (+info)
Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1).
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We report a previously undescribed autosomal reciprocal translocation, t(1;8)(q41;q23.1). It segregates in three families whose common origin lies at least 11 generations back. No examples of unbalanced karyotypes were encountered. Moreover, there was no circumstantial evidence that such live births had occurred during earlier generations. Couples in which one spouse was a translocation carrier were compared to related couples with normal karyotypes. The 15 carrier families had significantly more spontaneous abortions (32%) than the 22 normal couples (10%), irrespective of the sex of the carrier parent. However, the mean number of children was equal in both groups (2.0 and 2.4). Carrier families produced 17 children with a balanced translocation and seven with a normal karyotype. This deviates significantly (P = .04) from the expected 1:1 ratio. We conclude that this malsegregation helps to maintain the translocation in the population. These results show that empirically derived 1:1 segregation ratios previously reported in series that combine many different translocations do not apply to all individual translocations. (+info)
Interstitial deletion 2q24.3: case report with high resolution banding.
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Interstitial deletions of the long arm of chromosome 2, involving band 2q24, have been described on three occasions. We report our findings in a further case, in which we mapped the deletion to band 2q24.3. (+info)
Investigation of human chromosome polymorphisms by scanning electron microscopy.
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Human chromosome polymorphisms were investigated by scanning electron microscopy (SEM). Centromeric heterochromatin was of a constricted morphology. The extent of the C banded region was demarcated by a prominent circumferential groove in G banded chromosomes. Circumferential grooves were observed within the heterochromatin of chromosome 9, and the number of grooves present reflected the size of the region. Three dimensional viewing of satellites and short arms of acrocentric chromosomes, from different angles in the SEM, provided the opportunity for accurate assessment of the size of satellites to be made. Also, small morphological variations were defined in the SEM when definition was uncertain in the light microscope (LM). (+info)