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Probe YNZ22 (D17S5) is a highly polymorphic, variable number tandem repeat (VNTR) marker previously shown to be deleted in all patients with the Miller-Dieker syndrome (MDS) but not in patients with isolated lissencephaly sequence (ILS). Primers were constructed to the unique sequence flanking the polymorphic, repetitive region of YNZ22 for amplification by(More)
We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement and showed the derivative 21 to be composed of 3 distinct(More)
Electron microscopic investigations of surface spread synaptonemal complexes in spermatocytes from a 37-year-old man ascertained for infertility detected a pericentric inv(1), and subsequent lymphocyte analysis placed the breakpoints at p32 and q42. Most spermatocytes showed a maturation arrest at mid-pachytene explaining the azoospermia. As in two other(More)
Carbonic anhydrase IV (CA IV) is a glycosylphosphatidylinositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and on the luminal surface of proximal renal tubules. It is of interest for its functional importance in CO2 and HCO3- transport, its ancient evolutionary status among CA isozymes, and its(More)
We report on a family ascertained through a 14-month-old girl with a terminal deletion of chromosome 8p23.1. Analysis of the karyotype of other relatives showed that the mother is the carrier of a balanced complex 4-break chromosome rearrangement, which she and her brother inherited from their father following recombination. This complex chromosome(More)
Clonal trisomy 8 chromosome abnormalities can be detected in 15% of patients with acute myeloid leukemia (AML). The most common form of change is complete gain of the whole chromosome 8, followed by partial gains in unbalanced forms. The biologic consequences of trisomy 8 remain unclear, but a gene dosage effect is suspected. We report on three patients(More)
Carbonic anhydrase V (CA V) is expressed in mitochondrial matrix in liver and several other tissues. It is of interest for its putative roles in providing bicarbonate to carbamoyl phosphate synthetase for ureagenesis and to pyruvate carboxylase for gluconeogenesis and its possible importance in explaining certain inherited metabolic disorders with(More)
Mutations in the surfactant protein (SP)-B gene are responsible for SP-B deficiency in congenital alveolar proteinosis (CAP) (Nogee et al. J Clin Invest 1994: 93: 1860-1883; Lin et al. Mol Genet Metab 1998: 64: 25-35; Klein et al. Pediatrics 1998: 132: 244-248; Ballard et al. Pediatrics 1995: 96: 1046-1052). The multigenerational consanguineous pedigree(More)
Classic cytogenetic and comparative genomic hybridisation (CGH) data on osteosarcomas have been reported extensively in the literature. However, the number of paediatric osteosarcoma cases studied below the age of 14 years remains relatively small. This study reports four new cases of paediatric osteosarcoma in patients aged 3 to 13 years, evaluated by(More)
Interstitial deletion of the short arm of chromosome 1 is rare. Eleven different breakpoints have been described in 12 children. We report a patient with del(1)(p32.1p32.3). Only one of the previously reported patients had an apparent identical deletion to that of the present case. The phenotypes of the two patients are strikingly similar. Distinctive(More)