Indian Journal of Human Genetics
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CASE REPORT
Year : 2011  |  Volume : 17  |  Issue : 2  |  Page : 111-113

Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18


1 Sarem Cell Research Center, Sarem Hospital, Tehran, Iran
2 Sarem Cell Research Center, Sarem Hospital, Tehran;Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
3 Social Welfare and Rehabilitation Center, Karaj, Iran

Correspondence Address:
Farkhondeh Behjati
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Daneshjoo Blvd, Koodakyar St., Evin, Tehran
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.86201

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We present a pregnant woman with mental retardation and mosaic for ring 18 referred for prenatal diagnosis. Major clinical features included short stature with clinodactyly in feet, foot deformity and club feet, hypotonia, kyphosis, and absence of breast development, low set ears, high arched palate, dental decay and speech disorder. Prenatal diagnosis was carried. Using amniocentesis. The fetus had a normal karyotype described as 46,XX. The fetus was evaluated for clinical features after delivery; she was healthy with no abnormal clinical characterizations.


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