Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter -> q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling. Copyright (C) 2012 S. Karger AG, Base

Growth parameters estimates of Maurolicus stehmanni Parin & Kobyliansky 1996 (Teleostei, Sternoptichydae) from south and southeastern Brazilian waters

This paper on the otolith microstructure analysis of Maurolicus stehmanni presents estimates of the species growth parameters and longevity. The species inhabits the outer shelf and slope of the southern and southeastern Brazilian Exclusive Economic Zone (EEZ). Growth parameters are important for the knowledge of the species' life history and rational management. M. stehmanni constitutes an important link between the initial and final components of the alimentary chain of the open sea ecosystem, being one of the main food items for squids and large pelagic fish. Among the various applied methods those which presented the most coherent values for growth parameters and were best adapted to the von Bertallanfy's equation were: Li= 55mm K= 0.0088/day and to= 5.5 days Maurolicus stehmanni's longevity is of less than one year (around 220 days) and the sagita daily otolith rings are useful for the determination of its age.<br>Este estudo, baseado na análise da microestrutura dos otólitos de Maurolicus stehmanni, apresenta estimativas dos parâmetros de crescimento e longevidade para esta espécie que habita a plataforma externa e o talude da ZEE sul-sudeste do Brasil. Estes parâmetros são importantes para o conhecimento da estratégia de vida da espécie e para o manejo deste recurso, que constitui um importante elo entre os componentes iniciais e finais da teia alimentar no ecossistema de mar aberto, sendo um dos principais itens na dieta das lulas e grandes peixes pelágicos. Dentre os vários métodos aplicados, os valores dos parâmetros de crescimento mais coerentes com a estratégia da espécie e que melhor se ajustaram à equação de von Bertallanfy foram: Li= 55mm K= 0.0088/dia e to= 5.5 dias. A espécie vive cerca de 220 dias e as marcas diárias nos otólitos sagita são apropriadas para a determinação da idade