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Iranian Journal of Medical Sciences، جلد ۴۷، شماره ۵، صفحات ۴۹۴-۴۹۹
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عنوان انگلیسی Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report
چکیده انگلیسی مقاله Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay. We report a case of a seven-year-old girl with simultaneous 9p24.3 deletion and 8p23.3 duplication detected using multiplex ligation-dependent probe amplification (MLPA). Chromosomal and cytogenetic analyses using MLPA are effective in assessing genetic abnormalities in patients with developmental delay and mental retardation. We found breakpoints at 9p24.3 and duplication in the 8p23.3 region, leading to a wide variety of manifestations including speech delay, upslanting palpebral fissures, hypertelorism, epicanthal fold, high arched eyebrows, flat nasal bridge, thin upper lip, and cleft palate. Simultaneous detection of 9p24.3 deletion and 8p23.3 duplication has been rarely reported. Clinical phenotypes of our patient resembled the features of Nicolaides-Baraitser syndrome, which might have been primarily caused by the haploinsufficiency of SMARCA2 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily A, member 2) gene located at 9p24.3.
کلیدواژه‌های انگلیسی مقاله Chromosome disorders, Chromosome 9p deletion syndrome, Cytogenetics, Chromosome Aberrations, Multiplex polymerase chain reaction
نویسندگان مقاله Mozhgan Saberi |
Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotecnology, Tehran, Iran

Frouzandeh Mahjoubi |
Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotecnology, Tehran, Iran

نشانی اینترنتی https://ijms.sums.ac.ir/article_48162_39ececab9a808ce631ae4578733cc3e5.pdf
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