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Full trisomy 5 in a sample of spontaneous abortion and Arias Stella reaction.

Čulić V, Lozic B, Kuzmić-Prusac I, Mijaljica G, Pavelić J - Med. Sci. Monit. (2011)

Bottom Line: So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described.The routine cytogenetic analysis of miscarriages is still an uncommon practice, but it can have a great impact on the management of couples with repeated pregnancy wastage.Besides of the obvious cost benefit for health care, such analysis would help the physician to decide about future patient management, as well as planning the genetic counseling.

View Article: PubMed Central - PubMed

Affiliation: Clinical Hospital Split, Pediatrics Clinic, Department of Medical Genetics with Laboratory for Human Genetics and Genetic Counseling Unit, Split, Croatia.

ABSTRACT

Background: Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal abnormality, followed by trisomy 21 and trisomy 22. So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described.

Report: We present a case of de novo full trisomy 5 in a spontaneous abortion sample. A young couple with normal constitutional karyotype experienced the second spontaneous abortion at 9 weeks of gestation, with the cytogenetic formula 47,XX,+5 in all analyzed cells.

Conclusions: The routine cytogenetic analysis of miscarriages is still an uncommon practice, but it can have a great impact on the management of couples with repeated pregnancy wastage. Besides of the obvious cost benefit for health care, such analysis would help the physician to decide about future patient management, as well as planning the genetic counseling.

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Karyotype: 47,XX,+5[7] from spontaneous abortion material.
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f1-medscimonit-17-10-cs116: Karyotype: 47,XX,+5[7] from spontaneous abortion material.

Mentions: We present here a case of a rare type of mutation – single trisomy 5 in spontaneous abortion sample. Cells (fibroblasts) isolated from product of conception were cultured, and cytogenetic analysis by G-banding showed 47,XX,+5 [7] karyotype (Figure 1). A young childless couple (a 27-year-old woman and a 30-year-old man) with normal constitutional karyotype (46,XX and 46,XY) visited Clinical Hospital Split, Croatia after the woman experienced her second spontaneous abortion. The first spontaneous abortion was a year before. It was not cytogenetically analyzed; clinically it was diagnosed as a missed abortion at 8 weeks of gestation. Pathohistological analysis revealed extensive Arias Stella reaction in endometrial glands and partially degenerative and mildly hydropic chorionic villi, most of them avascular or with faintly visible remnants of former fetal vessels [13].


Full trisomy 5 in a sample of spontaneous abortion and Arias Stella reaction.

Čulić V, Lozic B, Kuzmić-Prusac I, Mijaljica G, Pavelić J - Med. Sci. Monit. (2011)

Karyotype: 47,XX,+5[7] from spontaneous abortion material.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3539472&req=5

f1-medscimonit-17-10-cs116: Karyotype: 47,XX,+5[7] from spontaneous abortion material.
Mentions: We present here a case of a rare type of mutation – single trisomy 5 in spontaneous abortion sample. Cells (fibroblasts) isolated from product of conception were cultured, and cytogenetic analysis by G-banding showed 47,XX,+5 [7] karyotype (Figure 1). A young childless couple (a 27-year-old woman and a 30-year-old man) with normal constitutional karyotype (46,XX and 46,XY) visited Clinical Hospital Split, Croatia after the woman experienced her second spontaneous abortion. The first spontaneous abortion was a year before. It was not cytogenetically analyzed; clinically it was diagnosed as a missed abortion at 8 weeks of gestation. Pathohistological analysis revealed extensive Arias Stella reaction in endometrial glands and partially degenerative and mildly hydropic chorionic villi, most of them avascular or with faintly visible remnants of former fetal vessels [13].

Bottom Line: So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described.The routine cytogenetic analysis of miscarriages is still an uncommon practice, but it can have a great impact on the management of couples with repeated pregnancy wastage.Besides of the obvious cost benefit for health care, such analysis would help the physician to decide about future patient management, as well as planning the genetic counseling.

View Article: PubMed Central - PubMed

Affiliation: Clinical Hospital Split, Pediatrics Clinic, Department of Medical Genetics with Laboratory for Human Genetics and Genetic Counseling Unit, Split, Croatia.

ABSTRACT

Background: Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal abnormality, followed by trisomy 21 and trisomy 22. So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described.

Report: We present a case of de novo full trisomy 5 in a spontaneous abortion sample. A young couple with normal constitutional karyotype experienced the second spontaneous abortion at 9 weeks of gestation, with the cytogenetic formula 47,XX,+5 in all analyzed cells.

Conclusions: The routine cytogenetic analysis of miscarriages is still an uncommon practice, but it can have a great impact on the management of couples with repeated pregnancy wastage. Besides of the obvious cost benefit for health care, such analysis would help the physician to decide about future patient management, as well as planning the genetic counseling.

Show MeSH
Related in: MedlinePlus