We examined the inheritance of allelic variation at an isozyme locus, MDH-B, duplicated by ancestral polyploidy in salmonid fishes. We detected only disomic segregation in females. Segregation ratios in males were best explained by a mixture of disomic and tetrasomic inheritance. We propose a two-stage model of pairing in male meiosis in which, first, homologous chromosomes pair and recombine i...

We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malformation, ventriculomegaly, bilateral clubfoot, l...

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmor...

PURPOSE To characterize ophthalmic findings in patients with tetrasomy 18p, a rare chromosomal anomaly that has been previously associated with strabismus. METHODS All subjects underwent a complete eye examination to screen for ocular pathology. RESULTS A total of 25 subjects (13 female) were examined after they were diagnosed with tetrasomy 18p. The average age of subjects was 8.2 years (r...

Histiocytic sarcoma (HS) is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68(+)...

Tetrasomy 8 is a rare clonal anomaly in human acute leukemia. Here we present a case of a 7-year-old boy with acute lymphoblastic leukemia (ALL) displaying a tetrasomy 8 clone that could not be detected by conventional cytogenetics. In this study, bone marrow and peripheral blood cells were collected at five different diagnostic stages and analyzed by double targeted fluorescence in situ hybrid...

© 2013 The Authors. doi: 10.2340/00015555-1437 Journal Compilation © 2013 Acta Dermato-Venereologica. ISSN 0001-5555 Chromosome 15q tetrasomy is in the heterogeneous group of extra-structurally abnormal chromosomes (1). The syndrome displays distinctive clinical findings represented by developmental delay, intellectual disability, epilepsy and autistic behaviour. Skin pigmentation has been obse...

We have demonstrated previously that oncogenic human papillomaviruses (HPVs) induce basal cell tetrasomy in low-grade squamous intraepithelial lesions of the cervix. To identify HPV genes and growth conditions involved in this process, we analyzed: (a) organotypic raft cultures of primary human keratinocytes transfected with whole HPV-18 genomes; and (b) organotypic raft cultures acutely infect...

BACKGROUND Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS The patient was diagnosed with tetraso...