| E-mail ID : info@iamg.in |
| E-mail ID : info@iamg.in |
Online Submission |
| Click Here For Online Submission |
| Instructions for authors |
Genetic Clinics |
| Editorial board |
Get Our Newsletter |
| Subscribe |
Send Your Feedback |
| Feedback Form |
About Us |
| IAMG |
Volume 6 | Issue 4 | October-December 2013 |
| Download Complete Issue |
| View Complete Issue |
| GeNeDiT | ||
| October-December 2013 | Vol 6 | Issue 4 | Pages 1-2 | ||
| Prenatal Diagnosis – Over the Counter / Direct to Consumer Testing | ||
| Prenatal diagnosis was a very revolutionary concept
in the prevention of a disease. Though it appears a
very radical method, it got accepted almost
worldwide and now has become an integral part of
obstetric care. Availability of screening of all
pregnant women for relatively common disorders
like neural tube defects, thalassemia major and
Down syndrome was another milestone in the
prevention of genetic disorders.... Shubha R Phadke |
||
| ClinicalVignette | ||
| October-December 2013 | Vol 6 | Issue 4 | Pages 3-5 | ||
| Mesomelic limb defects: a handle for prenatal diagnosis of Trisomy 18 syndrome | ||
| Trisomy 18 has been recognised as a definitive
syndrome since 1960 when it was first described by
Edwards et al. and is the second most common
multiple malformation syndrome. The prevalence is
approximately 1/6,000-1/8,000 live births and the
overall prevalence, taking into account fetal losses
and pregnancy terminations after prenatal
1 diagnosis, is 1/2500-1/2600... Anju Shukla, Rekha Gupta, Moni Tuteja, Shubha R Phadke |
||
| GeNeViSTA | ||
| October-December 2013 | Vol 6 | Issue 4 | Pages 6-11 | ||
| Cytogenetic Microarray: A revolution in Cytogenetics | ||
| Intellectual disability (ID) is the most common
clinical situation encountered in medical genetics
for counseling. Confirmation of diagnosis is the first
step to provide prognosis, genetic counseling and
option of prenatal diagnosis to the family. Despite
the exhaustive investigations, etiology remains
1 unidentified in 30-50% of the cases. With the advent
of molecular cytogenetic techniques... Dr Meenal Agarwal |
||
| GeNeViSTA | ||
| October-December 2013 | Vol 6 | Issue 4 | Pages 12-18 | ||
| Fetal Therapy- Current approaches and future possibilities | ||
| Strictly speaking, fetal therapy is defined as a
therapeutic intervention for the purpose of
correcting or treating a fetal anomaly or condition.
However, in a broader sense, it encompasses any
prenatal treatment administered to the mother
with the primary indication to improve perinatal or
long-term outcomes for the fetus or newborn... Dr Shagun Aggarwal |
||
| HearToHearTalk | ||
| October-December 2013 | Vol 6 | Issue 4 | Pages 19-20 | ||
| Short – on sensitivity! | ||
| Jayant and Rashmi (names changed) were married for
a year now. It was a dream come true for Rashmi's
three brothers- Anil, Anuj and Vimal (names changed).
It was a perfect marriage and the couple looked
beautiful together. Rashmi was young, slim, tall and
pretty as a 'picture'.Jayant was a handsome young man
and well settled financially... Divya Aggarwal, Shubha R Phadke |
||
| GeNeXprESS | ||
| October-December 2013 | Vol 6 | Issue 4 | Pages 21 | ||
| Inactivating the extra chromosome in Down syndrome | ||
| Down syndrome is the leading genetic cause of
intellectual disability and millions of Down syndrome
patients across the world also face multiple other health
issues. Jiang et al tried the first chromosome therapy for
Down syndrome with the idea of dosage compensation
correction. They inserted the XIST gene in to the DYRK1A
locus on chromosome 21 of induced pluripotent stem
(iPS) cells derived from a Down syndrome patient... SriLakshmi Bhavani |
||