A cytogenetic study of couples with miscarriages

An experience from Manipal referral centre

M. Rajasekhar, P. M. Gopinath, K. Sreelakshmi, K. Satyamoorthy

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Miscarriages are sporadic and are thought to result from genetic causes that are greatly influenced by parental chromosomal abnormalities. The researchers studied two hundred and ten couples to look for the prevalence of chromosomal abnormalities in couples with history of recurrent miscarriages. Karyotyping analysis was done by peripheral blood culture and GTG banding. Chromosomal aberrations were found in 8.57% patients: Numerical abnormalities - 0.95%, Structural abnormalities - 2.87% and polymorphic variants -4.76%. However, seven new balanced translocations detected in these patients have not been reported elsewhere in the literature. Couples whose carrier status was ascertained after two or more miscarriages have a low risk of viable offspring with unbalanced chromosomal abnormalities. Therefore, genetic counseling including karyotype is a prerequisite to identify risk factors in couples with recurrent miscarriages.

Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalInternational Journal of Human Genetics
Volume13
Issue number2
Publication statusPublished - 06-2013

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Spontaneous Abortion
Cytogenetics
Chromosome Aberrations
Referral and Consultation
Habitual Abortion
Karyotyping
Genetic Counseling
Karyotype
Research Personnel

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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abstract = "Miscarriages are sporadic and are thought to result from genetic causes that are greatly influenced by parental chromosomal abnormalities. The researchers studied two hundred and ten couples to look for the prevalence of chromosomal abnormalities in couples with history of recurrent miscarriages. Karyotyping analysis was done by peripheral blood culture and GTG banding. Chromosomal aberrations were found in 8.57{\%} patients: Numerical abnormalities - 0.95{\%}, Structural abnormalities - 2.87{\%} and polymorphic variants -4.76{\%}. However, seven new balanced translocations detected in these patients have not been reported elsewhere in the literature. Couples whose carrier status was ascertained after two or more miscarriages have a low risk of viable offspring with unbalanced chromosomal abnormalities. Therefore, genetic counseling including karyotype is a prerequisite to identify risk factors in couples with recurrent miscarriages.",
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A cytogenetic study of couples with miscarriages : An experience from Manipal referral centre. / Rajasekhar, M.; Gopinath, P. M.; Sreelakshmi, K.; Satyamoorthy, K.

In: International Journal of Human Genetics, Vol. 13, No. 2, 06.2013, p. 93-97.

Research output: Contribution to journalArticle

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