| CASE REPORT |
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| Year : 2014 | Volume
: 20
| Issue : 2 | Page : 203-205 |
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Phenotypical characterization of 13q deletion syndrome: Report of two cases
Eiman Bagherizadeh1, Yousef Shafaghati1, Fatemeh Hadipour1, Farkhondeh Behjati2
1 Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran
2 Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Correspondence Address:
Farkhondeh Behjati
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran
Iran
 Source of Support: None, Conflict of Interest: None  | 6 |
DOI: 10.4103/0971-6866.142912
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Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations. |
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