Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings |
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Authors: | Azadeh Shojaei Farkhondeh Behjati Pupak Derakhshandeh-Peykar Maryam Razzaghy-Azar Hasan Otukesh Roxana Kariminejad Mohammad-Ali Dowlati Ali Rashidi-Nezhad Javad Tavakkoly-Bazzaz |
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Institution: | 1. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;2. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;3. Department of Pediatric Endocrinology and Metabolism, Aliasghar Children Hospital, Tehran University of Medical Sciences, Tehran, Iran;4. Division of Pediatric Nephrology, Aliasghar Children Hospital, Tehran University of Medical Sciences, Tehran, Iran;5. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran |
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Abstract: | Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative chromosome 13 (der (13)). The patient presented with developmental delay, facial and non-facial dysmorphic features, hypertonia, genital abnormality and skeletal malformation but no thumb a-/hypoplasia or microphtalmia. Knowing the exact breakpoints of his chromosomal aberrations using high resolution array CGH (aCGH) and comparison of his phenotypes with those of 24 and 59 previously published cases of 7q duplication and 13q deletion, respectively, allow us to further narrow the size of the proposed critical regions for microcephaly, thumb a-/hypoplasia and hypo/hypertonia on chromosome 13. |
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Keywords: | Array CGH array comparative genomic hybridization aCGH array comparative genomic hybridization GTG G banding produced by trypsin and Giemsa MLPA multiplex ligation-dependent probe amplification BMI body mass index DMSA dimercaptosuccinic acid |
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