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Egyptian Journal of Medical Human Genetics [The]. 2010; 11 (2): 187-191
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-126686


An Arab child is presented herein with a phenotype that fits the rare Baraitser-Winter syndrome. Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia and developmental delay. Chromosomal analysis of the peripheral lymphocytes and FISH study revealed a normal 46, XX karyotype. To date, Baraitser-Winter syndrome has only been reported in 19 patients of different ethnic families. The present case adds a new finding to the spectrum of malformations published before

Humanos , Masculino , Anormalidades Congênitas , Anormalidades Múltiplas , Hipertelorismo , Deficiência Intelectual , Malformações Vasculares do Sistema Nervoso Central , Criança
Egyptian Journal of Medical Human Genetics [The]. 2007; 8 (2): 199-208
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-82408


The partial chromosome 8p duplication is a rare syndrome and is associated with a characteristic phenotype, including multiple congenital anomalies and mental retardation of various degrees. However, different outcomes depend on the size and location of the duplicated area. We present clinical and cytogenetic data of 5 Arab patients with de novo inversion duplication of 8p. This report provides additional cases to the growing literature

Humanos , Masculino , Feminino , Fenótipo , Deficiência Intelectual , Análise Citogenética , Literatura de Revisão como Assunto , Aberrações Cromossômicas