A CASE REPORT OF 22Q11 DELETION SYNDROME CONFIRMED BY ARRAY-CGH METHOD

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SEDGHI MARYAM; NOURI NARGES; ABDALI HOSSEIN; MEMARZADEH MEHRDAD; NOURI NAYEREH

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Journal: JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS) Year:2012 | Volume:17 | Issue:3 Page(s): 310-312

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Title

A CASE REPORT OF 22Q11 DELETION SYNDROME CONFIRMED BY ARRAY-CGH METHOD

Author(s)

Keywords

VCF

22QDEL

CGH ARRAY

CLEFT PALATE

Abstract

Velo-cardio-facial syndrome (VCFS) is caused by a submicroscopic deletion on the long arm of chromosome 22 and affects approximately 1 in 4000 persons, making it the second most prevalent genetic syndrome after Down syndrome and the most common genetic syndrome associated with CLEFT PALATE. Most of the 22q11.2 deletion cases are new occurrences or sporadic, however, in about 10 % of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children.This report describes a 1.5 years-old male child with clinical signs of velo-cardio-facial syndrome (VCFS) presented with heart defect, soft CLEFT PALATE, developmental delay, acrocephaly, seizure, MRI abnormalities and descriptive facial feature, such as hypertelorism.Array-CGH test was done to confirm the diagnosis, the result revealed a 2.6 Mbp deletion in 22q11.2 chromosome that containing TBX1and COMT genes. Our data suggest that haploinsufficiency of TBX1 gene is probably a major contributor to some of the syndrome characteristic signs, such as heart defect. Because of developmental delay and dysmorphic facial feature were observed in the index's mother and relatives, inherited autosomal dominant form of VCF is probable, and MLPA (multiplex ligation-dependent probe amplification) test should be performed for parents to estimate the recurrent risk in next pregnancy.

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APA: Copy

SEDGHI, MARYAM, NOURI, NARGES, ABDALI, HOSSEIN, MEMARZADEH, MEHRDAD, & NOURI, NAYEREH. (2012). A CASE REPORT OF 22Q11 DELETION SYNDROME CONFIRMED BY ARRAY-CGH METHOD. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 17(3), 310-312. SID. https://sid.ir/paper/605277/en

Vancouver: Copy

SEDGHI MARYAM, NOURI NARGES, ABDALI HOSSEIN, MEMARZADEH MEHRDAD, NOURI NAYEREH. A CASE REPORT OF 22Q11 DELETION SYNDROME CONFIRMED BY ARRAY-CGH METHOD. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2012;17(3):310-312. Available from: https://sid.ir/paper/605277/en

IEEE: Copy

MARYAM SEDGHI, NARGES NOURI, HOSSEIN ABDALI, MEHRDAD MEMARZADEH, and NAYEREH NOURI, “A CASE REPORT OF 22Q11 DELETION SYNDROME CONFIRMED BY ARRAY-CGH METHOD,” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 17, no. 3, pp. 310–312, 2012, [Online]. Available: https://sid.ir/paper/605277/en

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