WOLF-HIRSCHHORN SYNDROME: A CASE WITH NORMAL KARYOTYPE, DEMONSTRATED BY ARRAY CGH (ACGH) (CASE REPORT)

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SABERI ALIHOSSEIN; SHARIATI GHOLAMREZA; HAMID MOHAMMAD; GALEHDARI HAMID; ABDORASOULI NEHZAT

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Journal: ARCHIVES OF IRANIAN MEDICINE Year:2014 | Volume:17 | Issue:9 Page(s): 642-644

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Title

WOLF-HIRSCHHORN SYNDROME: A CASE WITH NORMAL KARYOTYPE, DEMONSTRATED BY ARRAY CGH (ACGH) (CASE REPORT)

Author(s)

Keywords

ARRAY CGH

WOLF

HIRSCHHORN SYNDROME

4P16.3 DELETION

Abstract

Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and had an apparently normal karyotype. Array comparative genomic hybridization performed on the DNA extracted from peripheral blood revealed loss of 1.7Mb at 4q16.3-q15.3. Taken together, this data suggests that a patient with strong clinical suspicion of chromosome abnormality and normal conventional karyotype analysis should be further evaluated by molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH) or fluorescence in situ hybridization (FISH).

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APA: Copy

SABERI, ALIHOSSEIN, SHARIATI, GHOLAMREZA, HAMID, MOHAMMAD, GALEHDARI, HAMID, & ABDORASOULI, NEHZAT. (2014). WOLF-HIRSCHHORN SYNDROME: A CASE WITH NORMAL KARYOTYPE, DEMONSTRATED BY ARRAY CGH (ACGH) (CASE REPORT). ARCHIVES OF IRANIAN MEDICINE, 17(9), 642-644. SID. https://sid.ir/paper/281085/en

Vancouver: Copy

SABERI ALIHOSSEIN, SHARIATI GHOLAMREZA, HAMID MOHAMMAD, GALEHDARI HAMID, ABDORASOULI NEHZAT. WOLF-HIRSCHHORN SYNDROME: A CASE WITH NORMAL KARYOTYPE, DEMONSTRATED BY ARRAY CGH (ACGH) (CASE REPORT). ARCHIVES OF IRANIAN MEDICINE[Internet]. 2014;17(9):642-644. Available from: https://sid.ir/paper/281085/en

IEEE: Copy

ALIHOSSEIN SABERI, GHOLAMREZA SHARIATI, MOHAMMAD HAMID, HAMID GALEHDARI, and NEHZAT ABDORASOULI, “WOLF-HIRSCHHORN SYNDROME: A CASE WITH NORMAL KARYOTYPE, DEMONSTRATED BY ARRAY CGH (ACGH) (CASE REPORT),” ARCHIVES OF IRANIAN MEDICINE, vol. 17, no. 9, pp. 642–644, 2014, [Online]. Available: https://sid.ir/paper/281085/en

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