REPORT OF A NEW CASE WITH PENTASOMY X AND NOVEL CLINICAL FINDINGS
Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S, Inandiklioglu N, Luleyap U, Akbal E, Comertpay G,Tufan T, Dur O
*Corresponding Author: Professor Dr. Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Saricam, Adana, Turkey. Tel: +90-322-338-7140. Fax: +90-322- 338-6572. E-mail: osdemir@cu.edu.tr
page: 85

RESULTS

In this study, the mother had three previous pregnancies that resulted in the delivery of healthy children. In the present pregnancy, all of the infant cells analyzed had an abnormal karyotype of 49,XXXXX, and some cells have structural abnormalities such as del(13)(q22-p2), chromatin break (3q) and rosette formation (Figure 2). There was no evidence of mosaicism. The phenotypically normal siblings, mother and father all had normal karyotypes (46,XX or 46,XY) (Figure 3). In this study, 11 gender STR markers were amplified: chromosome X specific; SBMA, DXS6803, DXS6809, DXS8377 and HPRT; both chromosomes X- and Y-specific; AMXY, DXYS218, X22, DXYS267 and DXYS156; chromosome Y-specific, SRY and chromosomes 3- and X-specific TAF9L. The TAF9L region was used for the determination of the numbers of chromosomes X and 3 to compare somatic vs. sex chromosomes. When the peak areas of AMXY and DXYS218 of the child, mother, and father were compared, it can be seen that there is an imbalance of the X chromosome in the child. This condition indicates the penta X condition of the child. As it was seen in Figure 3, all the chromosome X specific STR markers of the child inherited from the mother (origin of the aneuploidy is maternal) and heterozygosity was retained in all regions (proximal, medial and distal regions) of the four X chromosomes, this is the expected condition of non disjunction in both meiosis I and meiosis II. This showed that four of the X chromosomes of the child originated from the mother, and revealed a de novo tetrasomy of maternal chromosome X. The other X chromosome originated from the father.



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