Marwa I K Shehab

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Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in(More)
BACKGROUND Olmsted syndrome is a rare keratinization disorder characterized by mutilating palmoplantar and periorificial keratoderma as the two major diagnostic features. Some authors believe that atypical cases without this standard combination may not really belong to Olmsted syndrome. Herein, we describe two familial cases with congenital nonmutilating(More)
To investigate the influence that measurement of balloon volume as a controlled variable in addition to balloon pressure has on the outcome of balloon angioplasty in an experimental model. One hundred and three segments of explanted normal porcine carotid arteries were obtained. Five were used as controls, and the remaining 98 were subjected to balloon(More)
OBJECTIVE To investigate whether primary nocturnal enuresis (PNE) is related to a disturbance in anti-diuretic hormone (ADH) secretion pattern at night which may be genetically inherited. SUBJECTS AND METHODS This study included 121 children aged 6-18 years with PNE and 45 matched healthy children as controls. Enuretic children were subjected to genetic(More)
We report 24 patients with holoprosencephaly (HPE) spectrum screened for Del 7q36 and subtelomere 13q. They were divided according to the type of HPE into: 6 alobar, 15 semilobar, 1 lobar and 2 middle interhemispheric variant (MIH). All patients presented with global developmental delay. Microcephaly was in 83.3% and midfacial developmental defects were in(More)
We report on a patient with a mild clinical phenotype, including genital anomalies, with mosaic tetrasomy 9p. Karyotype analysis of peripheral blood lymphocytes detected a supernumerary isochromosome 9p present in every cell, with the initial result being reported as tetrasomy 9p in non-mosaic form. However,array Comparative Genomic Hybridization (aCGH)(More)
We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bilateral optic atrophy and the visual(More)
Isodicentric chromosome formation is the most common structural abnormality of the Y chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell division resulting in mosaicism with a 45,X cell line. We report on six patients with variable signs of disorders of sex development (DSD) including ambiguous genitalia, short(More)
Background: Debate is ongoing about the role of abnormalities of bladder function in primary nocturnal enuresis (PNE). Increasing post voiding residual urine volume was reported to be typically a sign of abnormal detrusor function.Aim: Assessment of post-void residual urine volume in children with PNE for evaluating bladder dysfunction.Subjects & Methods:(More)
We report on a 9-year-old female patient presenting with muscle weakness, facial dysmorphism and mild mental retardation. She had low birth weight, developmental delay, hypotonia and hyporeflexia and difficulties in climbing the stairs. EMG revealed axonal polyneuropathy affecting both upper and lower limbs. She was the child of non-consanguineous parents,(More)