A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype
Primary amenorrhea (PA) refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of women in the reproductive age group. Various factors such as anatomical, genetic and hormonal factors reported to influence PA. We report tripl...
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Wolters Kluwer Medknow Publications,
2011-01-01T00:00:00Z.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_33b8e95514fe4a1e8e1a10e89d27f4b9 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Seema Korgaonkar |e author |
| 700 | 1 | 0 | |a Kanjaksha Ghosh |e author |
| 700 | 1 | 0 | |a Babu Rao Vundinti |e author |
| 245 | 0 | 0 | |a A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype |
| 260 | |b Wolters Kluwer Medknow Publications, |c 2011-01-01T00:00:00Z. | ||
| 500 | |a 0974-1208 | ||
| 500 | |a 1998-4766 | ||
| 500 | |a 10.4103/0974-1208.82362 | ||
| 520 | |a Primary amenorrhea (PA) refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of women in the reproductive age group. Various factors such as anatomical, genetic and hormonal factors reported to influence PA. We report triple chromosomal abnormalities of rob(13;14)(q10;q10),inv(9)(p13q33), i(Xq)(qter---q10::---qter) in a case of PA and short stature. Though proband has multiple chromosome aberrations, genotypic effect of only i(Xq) is evident as proband has PA and short stature. The rob(13;14) and inv(9), which are paternally derived may have role in later reproductive age. Therefore, chromosomal analysis is essential in such cases for the accurate diagnosis and management of the disease. | ||
| 546 | |a EN | ||
| 690 | |a Primary amenorrhea | ||
| 690 | |a short stature | ||
| 690 | |a translocations | ||
| 690 | |a inversions | ||
| 690 | |a multiple chromosomal abnormalities | ||
| 690 | |a Gynecology and obstetrics | ||
| 690 | |a RG1-991 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Journal of Human Reproductive Sciences, Vol 4, Iss 1, Pp 53-55 (2011) | |
| 787 | 0 | |n http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2011;volume=4;issue=1;spage=53;epage=55;aulast=Korgaonkar | |
| 787 | 0 | |n https://doaj.org/toc/0974-1208 | |
| 787 | 0 | |n https://doaj.org/toc/1998-4766 | |
| 856 | 4 | 1 | |u https://doaj.org/article/33b8e95514fe4a1e8e1a10e89d27f4b9 |z Connect to this object online. |