Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report
This is a case report of a male patient with rare 9qh+ variant containing extra G positive band along with an increase in heterochromatin in the long arm of Y-chromosome, presenting with primary infertility. There have been various reports on the involvement of 9h+ variation in infertility. In this...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2018-10-01
|
| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/12159/37442_270818_37442_CE[Ra]_F(P)_PF1(MJ_AP).pdf |
| _version_ | 1818921920758808576 |
|---|---|
| author | Afreen Aftab Kundavi Shankar Bibhas Kar |
| author_facet | Afreen Aftab Kundavi Shankar Bibhas Kar |
| author_sort | Afreen Aftab |
| collection | DOAJ |
| description | This is a case report of a male patient with rare 9qh+ variant containing extra G positive band along with an increase in heterochromatin in the long arm of Y-chromosome, presenting with primary infertility. There have been various reports on the involvement of 9h+ variation in infertility. In this case, the association maybe coincidental and not causal as the proband’s mother was also presented with similar 9qh+ variation and hence, is not infertile. Besides Yqh+ has been reported to be involved in male factor infertility or subfertility. There have been reports suggesting that epigenetic modifications accompanying cases of inherited heterochromatin polymorphisms may lead to phenotypic effects with clinical significance such as infertility that may not be seen in the parents. |
| first_indexed | 2024-12-20T01:45:19Z |
| format | Article |
| id | doaj.art-ca5dcd0bee9e410ea8bd54b7fb726138 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-20T01:45:19Z |
| publishDate | 2018-10-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-ca5dcd0bee9e410ea8bd54b7fb7261382022-12-21T19:57:48ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2018-10-011210GD01GD0210.7860/JCDR/2018/37442.12159Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case ReportAfreen Aftab0Kundavi Shankar1Bibhas Kar2Research Assistant, Center for Genetic Studies and Research, The Madras Medical Mission, Chennai, Tamil Nadu, India.Senior Consultant and Head, Institute of Reproductive Medicine and Women’s Health, The Madras Medical Mission, Chennai, Tamil Nadu, India.Consultant and Head, Center for Genetic Studies and Research, The Madras Medical Mission, Chennai, Tamil Nadu, India.This is a case report of a male patient with rare 9qh+ variant containing extra G positive band along with an increase in heterochromatin in the long arm of Y-chromosome, presenting with primary infertility. There have been various reports on the involvement of 9h+ variation in infertility. In this case, the association maybe coincidental and not causal as the proband’s mother was also presented with similar 9qh+ variation and hence, is not infertile. Besides Yqh+ has been reported to be involved in male factor infertility or subfertility. There have been reports suggesting that epigenetic modifications accompanying cases of inherited heterochromatin polymorphisms may lead to phenotypic effects with clinical significance such as infertility that may not be seen in the parents.https://jcdr.net/articles/PDF/12159/37442_270818_37442_CE[Ra]_F(P)_PF1(MJ_AP).pdfchromosomal aberrationconstitutive heterochromatinmale infertility |
| spellingShingle | Afreen Aftab Kundavi Shankar Bibhas Kar Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report Journal of Clinical and Diagnostic Research chromosomal aberration constitutive heterochromatin male infertility |
| title | Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report |
| title_full | Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report |
| title_fullStr | Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report |
| title_full_unstemmed | Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report |
| title_short | Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report |
| title_sort | extra g positive band on long arm of chromosome 9 and long y chromosome in a patient presenting with infertility a case report |
| topic | chromosomal aberration constitutive heterochromatin male infertility |
| url | https://jcdr.net/articles/PDF/12159/37442_270818_37442_CE[Ra]_F(P)_PF1(MJ_AP).pdf |
| work_keys_str_mv | AT afreenaftab extragpositivebandonlongarmofchromosome9andlongychromosomeinapatientpresentingwithinfertilityacasereport AT kundavishankar extragpositivebandonlongarmofchromosome9andlongychromosomeinapatientpresentingwithinfertilityacasereport AT bibhaskar extragpositivebandonlongarmofchromosome9andlongychromosomeinapatientpresentingwithinfertilityacasereport |