TY - JOUR ID - 48162 TI - Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report JO - Iranian Journal of Medical Sciences JA - IJMS LA - en SN - 0253-0716 AU - Saberi, Mozhgan AU - Mahjoubi, Frouzandeh AD - Department of Medical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotecnology, Tehran, Iran Y1 - 2022 PY - 2022 VL - 47 IS - 5 SP - 494 EP - 499 KW - Chromosome disorders KW - Chromosome 9p deletion syndrome KW - Cytogenetics KW - Chromosome Aberrations KW - Multiplex polymerase chain reaction DO - 10.30476/ijms.2021.89353.2039 N2 - 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. UR - https://ijms.sums.ac.ir/article_48162.html L1 - https://ijms.sums.ac.ir/article_48162_39ececab9a808ce631ae4578733cc3e5.pdf ER -