Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report

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Saberi Mozhgan; MAHJOUBI FROUZANDEH

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Journal Paper

Paper Information

Journal: IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS) Year:2022 | Volume:47 | Issue:5 Page(s): 494-499

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Information Journal Paper

Title

Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report

Author(s)

Saberi Mozhgan | MAHJOUBI FROUZANDEH | Issue Writer Certificate

Keywords

Chromosome disorders

Chromosome 9p deletion syndrome

Cytogenetics

Chromosome aberrations

Multiplex polymerase chain reaction

Abstract

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.

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APA: Copy

Saberi, Mozhgan, & MAHJOUBI, FROUZANDEH. (2022). Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report. IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS), 47(5), 494-499. SID. https://sid.ir/paper/1091480/en

Vancouver: Copy

Saberi Mozhgan, MAHJOUBI FROUZANDEH. Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report. IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS)[Internet]. 2022;47(5):494-499. Available from: https://sid.ir/paper/1091480/en

IEEE: Copy

Mozhgan Saberi, and FROUZANDEH MAHJOUBI, “Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report,” IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS), vol. 47, no. 5, pp. 494–499, 2022, [Online]. Available: https://sid.ir/paper/1091480/en

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