Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12

Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RFS, Leroy JG. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12
Clin Genet 1993: 44: 156–163. © Munksgaard, 1993
We describe the application of multi-color fluorescence in situ hybridization (FISH) in the characterization of a familial pericentric inversion. Using chromosome 12 short- and long-arm specific DNA probes, fast and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus provides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possible for identification of similar chromosome rearrangements provided that probes for the putatively involved chromosome region are available.     

Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers–Danlos syndrome type IV

A single base mismatch was detected by single-strand conformation polymorphism (SSCP) of the collagen type III gene in a patient with Ehlers-Danlos syndrome type IV. The patient's fibroblasts secreted both normal and slowly migrating type III procollagen molecules. Two-dimensional CNBr peptide mapping suggested that the defect was localised in the CB9 peptide or the C-propeptide region of the α1(III)-chain. Analysis of a set of restriction-endonuclease-digested fragments of an amplified cDNA sequence encoding CB9, identified a single-strand conformation polymorphism and localized it within a region of 79 bp corresponding to the carboxyl-terminal end of the CB9 peptide of the α1(III)-chain. DNA sequence analysis demonstrated that the patient was heterozygous for a point mutation converting G to T at base pair 3440 of the collagen α₁,(III) cDNA resulting in the substitution of glycine with valine at amino acid position 1009 of the α₁(III)-chain. The mutation in this patient lies within a region of mutations at the carboxyl-terminal end of the type III collagen α-helix which all produce a severe “acrogeric” form of EDS IV. © 1994 Wiley-Liss, Inc.     

Cytogenetic investigation of a case of congenital fibrosarcoma

Cytogenetic studies were performed on a fibrosarcoma of a newborn. Only numerical chromosome changes (+8, +11, +20) were identified in this rare but distinct soft tissue sarcoma that occurs in children less than 5 years old.     

Multicentric reticulohistiocytosis: report of a case with systemic disease

Multicentric reticulohistiocytosis (RHM) is a rare non Langherhans cell histiocytosis with skin and joint involvment. Nearly all organs can be involved. Association with cancer occurs in about 25% of cases. Association with auto-immune diseases has also been recorded. Microscopic examination shows a histiocytic nodular infiltrate made of giant cells with ground-glass appearance and PAS positive cytoplasm. Immunostaining shows cell positivity for CD68 and negativity for CD1a and S100 protein. No Birbeck granules are found at ultrastructural examination.