Prenatal Detection and Postnatal Follow-Up of Segmental Aneusomies of Chromosome 13 in 4 Consecutive Pregnancies in an Ethnic South Indian Family With a Maternally Inherited Balanced Translocation.
OBJECTIVE
To assess the postnatal clinical manifestation of an antenatally detected unbalanced rearrangement involving chromosome 13 in an ethnic South Indian couple.


METHODS
We used conventional cytogenetics on fetal cells obtained from prenatal specimens and on peripheral blood lymphocytes from consanguineous family members to ascertain the chromosomal abnormalities.


RESULTS
We report the reproductive outcomes of a maternally inherited chromosome translocation involving chromosome 9 and 13 and the informed decisions of the couple, after genetic counseling in India, regarding their 4 pregnancies.


CONCLUSIONS
This case report highlights the current practice in India of offering prenatal diagnosis and preimplantation genetic diagnosis to individuals who are carriers of balanced translocations, to reduce the risk of conceiving chromosomally abnormal offspring.
Center for Infertility Management and Assisted Reproduction (CIMAR), Kochi, India.
Athena
A
Francis
Center for Infertility Management and Assisted Reproduction (CIMAR), Kochi, India.
Sharrifa Mogaideen
SM
Meleyil
Center for Infertility Management and Assisted Reproduction (CIMAR), Kochi, India.
Jesmi Poulose
JP
Pullely
Department of Human Genetics, Sri Ramachandra University, Chennai, India.
Teena
T
Koshy
Center for Infertility Management and Assisted Reproduction (CIMAR), Kochi, India.
Meenu Parasuram
MP
Batra
Center for Infertility Management and Assisted Reproduction (CIMAR), Kochi, India.
Bijoy Balakrishnan
BB
Kottukkal
Center for Infertility Management and Assisted Reproduction (CIMAR), Kochi, India ccgenetics@gmail.com.
Gopinathan Karunakaran
GK
Kannoly
D000328:Adult; D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics*
South Indian; balanced chromosome translocation; karyotyping; partial monosomy; partial trisomy; prenatal diagnosis