Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF) : A Case Report
Joint Authors
Mazzaschi, Roberto L. P.
Hayes, Ian
George, Alice M.
Love, Donald R.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-07-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21.
Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues.
Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings.
Parental bloods showed that the mother was mosaic for the ring 21 with a karyotype of 46,XX,r(21)(p11.2q22.3)/46,XX and the father had an unrelated Robertsonian translocation, with a karyotype of 45,XY,rob(13;14)(q10;q10).
Microarray analysis of cultured amniocytes determined the extent of the deletion of chromosome 21 material in the ring.
The parents were given genetic counselling, and a phenotypically normal female baby was delivered at term.
This case highlights the importance of karyotyping as an initial step in the management of couples referred for in vitro fertilization.
American Psychological Association (APA)
Mazzaschi, Roberto L. P.& Love, Donald R.& Hayes, Ian& George, Alice M.. 2011. Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF) : A Case Report. Case Reports in Genetics،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-450444
Modern Language Association (MLA)
Mazzaschi, Roberto L. P.…[et al.]. Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF) : A Case Report. Case Reports in Genetics No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-450444
American Medical Association (AMA)
Mazzaschi, Roberto L. P.& Love, Donald R.& Hayes, Ian& George, Alice M.. Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF) : A Case Report. Case Reports in Genetics. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-450444
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-450444