1. Prenatal Implications in A Robertsonian Translocation Silent Carrier Female -- A Case Report.
- Author
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Kaur, Simranpreet, Sood, Reena, Singh Sandhu, Inder Mohan, and Bhanwer, A. J. S.
- Subjects
CARRIER state (Communicable diseases) ,BEHAVIOR modification ,INFERTILITY ,PRENATAL diagnosis ,GENETIC counseling ,FETAL ultrasonic imaging ,ANEUPLOIDY ,KARYOTYPES ,HEALTH behavior ,GENETIC testing ,MEDICAL referrals ,AMNIOCENTESIS ,CHILDBIRTH ,FETUS - Abstract
Robertsonian translocation (RT) involves the end-to-end fusion of two acrocentric chromosomes. RT between chromosome 21 and any other acrocentric chromosome can lead to infertility, early pregnancy miscarriages or the birth of a Down syndrome (DS) baby in silent carriers. DS is a genetic disorder characterised by distinct physical features and some degree of cognitive disability. Mainly there are three cytogenetic forms of DS -- full trisomy 21, mosaic trisomy 21 and RT trisomy 21. However, genetic counselling and targeted prenatal diagnostic testing can help RT carriers give birth to a normal baby. With this, we present a case report where preconception and prenatal genetic counselling and testing helped a RT Carrier female give birth to a healthy child. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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