A CASE REPORT OF FRAGILE X SYNDROME WITH FINGERS ANOMALY

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ASHRAFZADEH F.; ABBASZADEGAN M.; GHAEMI N.

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Journal: Avicenna Journal of Clinical Medicine Year:2003 | Volume:10 | Issue:1 Page(s): 63-67

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Title

A CASE REPORT OF FRAGILE X SYNDROME WITH FINGERS ANOMALY

Author(s)

ASHRAFZADEH F. | ABBASZADEGAN M. | GHAEMI N. | Issue Writer Certificate

Keywords

FRAGILE X SYNDROMEQ4

GENE FMR 1Q4

MACROORCHIDISMQ3

MENTAL RETARDATIONQ4

Abstract

FRAGILE X SYNDROME, the most common cause of inherited MENTAL RETARDATION, results from mutation in fragile X MENTAL RETARDATION gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe MENTAL RETARDATION without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior disorder and occasionally autistic behavior. Hyperextensible joints may also be seen in these patients. There is no other congenital malformation in FRAGILE X SYNDROME.In this article we presented a 6 years old boy with FRAGILE X SYNDROME who in addition to his characteristic clinical features had large thumbs and toes, which was disproportionate in size to his thumb nails and toe nails. In a case report from division of medical Genetics, Newyork Hospital in Cornell University, a twin brothers with FRAGILE X SYNDROME also had cleft palate and ventricular septal defect. The diagnosis of this case was performed by culturing the patient's peripheral blood lymphocytes in media lacking folate which expose the fragile X sites. The chromosomal analysis was performed using G-banding.

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APA: Copy

ASHRAFZADEH, F., ABBASZADEGAN, M., & GHAEMI, N.. (2003). A CASE REPORT OF FRAGILE X SYNDROME WITH FINGERS ANOMALY. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), 10(1), 63-67. SID. https://sid.ir/paper/17967/en

Vancouver: Copy

ASHRAFZADEH F., ABBASZADEGAN M., GHAEMI N.. A CASE REPORT OF FRAGILE X SYNDROME WITH FINGERS ANOMALY. AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES)[Internet]. 2003;10(1):63-67. Available from: https://sid.ir/paper/17967/en

IEEE: Copy

F. ASHRAFZADEH, M. ABBASZADEGAN, and N. GHAEMI, “A CASE REPORT OF FRAGILE X SYNDROME WITH FINGERS ANOMALY,” AVICENNA JOURNAL OF CLINICAL MEDICINE (SCIENTIFIC JOURNAL OF HAMADAN UNIVERSITY OF MEDICAL SCIENCES AND HEALTH SERVICES), vol. 10, no. 1, pp. 63–67, 2003, [Online]. Available: https://sid.ir/paper/17967/en

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