Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report
Journal Title: Journal of Clinical and Diagnostic Research - Year 2018, Vol 12, Issue 10
Abstract
ABSTRACT 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.
Authors and Affiliations
Afreen Aftab, Kundavi Shankar, Bibhas Kar
Keywords
Related Articles
- EP ID EP526281
- DOI 10.7860/JCDR/2018/37442.12159
- Views 78
- Downloads 0
Sexual Dimorphism of Maxillary Sinus: A Morphometric Analysis using Cone Beam Computed Tomography
Introduction: Age and sex determination in forensic sciences are primary components of any skeletal analysis. As most bones used for sex determination are recovered in incomplete state, it is often necessary to use bones...
Soft Tissue Foreign Body: Utility of High Resolution Ultrasonography
Introduction: Minor percentage of wooden foreign bodies is radio-opaque. High Resolution Ultrasonography (HRUSG) though existing is sparsely used as a primary imaging modality for diagnosis and localization of retained f...
Incidence and Risk Factors for Prolonged Stay in Children Hospitalised with Pneumonia
ABSTRACT Introduction: Lower Respiratory Tract Infection (LRTI) is one of the common causes of morbidity and mortality in children and is responsible for hospitalisation. Aim: The current descriptive epidemiological stud...
A Huge Ovarian Dermoid Cyst: Successful Laparoscopic Total Excision
Giant ovarian cysts, ≥15 cm in diameter, are quite rare in women of reproductive age. Here, we present a case of ovarian cyst with unusual presentation treated by laparoscopic surgery. On histology, mass was found to be...
Insulin Injection Site Adverse Effect in a Type 1 Diabetes Patient: An Unusual Presentation
Insulin is an integral part of Type 1 diabetes management. Patient education is of utmost importance to ensure proper injection technique for getting appropriate glycaemic control as well as to avoid injection site adver...