APPLICATION OF MOLECULAR GENETICS IN MICRO DELETION SYNDROMES: REPORT OF THE RESULTS OF 21 FISH TESTS FOR WILLIAMS BEUREN SYNDROME

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KARIMINEJAD MOHAMMAD HASAN; MOSHTAGH AZADEH; MIRAFTABI NARGES; ZANDI FARANAK; SABETKASSAEI NILOUFAR; REFGHI HEDYEH; KARIMINEJAD ROXANA

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2010 | Volume:8 | Issue:2 Page(s): 2019-2022

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Title

APPLICATION OF MOLECULAR GENETICS IN MICRO DELETION SYNDROMES: REPORT OF THE RESULTS OF 21 FISH TESTS FOR WILLIAMS BEUREN SYNDROME

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Keywords

FISHQ3

MICRODELITIONQ3

CYTOGENETICQ3

Abstract

Twenty one FISH tests for confirmation of Williams Beuren Syndrome (19 Peripheral blood, and two amniotic cells cultures) have been performed.FISH tests in four couples with one affected child of Williams Syndrome are negative for abnormal critical segment of del (7pll-23), which indicates that the deletion in the affected children is of de novo origin.There are two negative FISH tests out of 8 candidates suspected for WS. One is positive for Prader- Willi Syndrome, the other one is negative for WS, so far. One negative FISH test out of 8 indicates the importance of FISH test in detection of microdeletion disease, especially in Williams Beuren Syndrome.

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APA: Copy

KARIMINEJAD, MOHAMMAD HASAN, MOSHTAGH, AZADEH, MIRAFTABI, NARGES, ZANDI, FARANAK, SABETKASSAEI, NILOUFAR, REFGHI, HEDYEH, & KARIMINEJAD, ROXANA. (2010). APPLICATION OF MOLECULAR GENETICS IN MICRO DELETION SYNDROMES: REPORT OF THE RESULTS OF 21 FISH TESTS FOR WILLIAMS BEUREN SYNDROME. GENETICS IN THE 3RD MILLENNIUM, 8(2), 2019-2022. SID. https://sid.ir/paper/117175/en

Vancouver: Copy

KARIMINEJAD MOHAMMAD HASAN, MOSHTAGH AZADEH, MIRAFTABI NARGES, ZANDI FARANAK, SABETKASSAEI NILOUFAR, REFGHI HEDYEH, KARIMINEJAD ROXANA. APPLICATION OF MOLECULAR GENETICS IN MICRO DELETION SYNDROMES: REPORT OF THE RESULTS OF 21 FISH TESTS FOR WILLIAMS BEUREN SYNDROME. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2010;8(2):2019-2022. Available from: https://sid.ir/paper/117175/en

IEEE: Copy

MOHAMMAD HASAN KARIMINEJAD, AZADEH MOSHTAGH, NARGES MIRAFTABI, FARANAK ZANDI, NILOUFAR SABETKASSAEI, HEDYEH REFGHI, and ROXANA KARIMINEJAD, “APPLICATION OF MOLECULAR GENETICS IN MICRO DELETION SYNDROMES: REPORT OF THE RESULTS OF 21 FISH TESTS FOR WILLIAMS BEUREN SYNDROME,” GENETICS IN THE 3RD MILLENNIUM, vol. 8, no. 2, pp. 2019–2022, 2010, [Online]. Available: https://sid.ir/paper/117175/en

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