Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood

Trisomy 9 mosaicism

Rika Kosaki, Sae Hanai, Hiroki Kakishima, Michiyo A. Okada, Satoshi Hayashi, Yushi Ito, Takao Takahashi, Kenjiro Kosaki, Torayuki Okuyama

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnatal blood karyotyping; the patient also exhibited multiple malformations, including a diaphragmatic hernia, arthrogryposis, undescended testes, and characteristic facies. Because of the discrepancy between the phenotype and karyotype, we repeated the chromosomal studies on multiple occasions. Interphase FISH performed on abdominal wall muscle tissue revealed a mosaic trisomy 9 karyotype: 47,XY, + 9(159)/46,XY (19). Based on these findings, we finally diagnosed the patient as having trisomy 9 mosaicism and counseled the parents that the risk of recurrence was low. We conclude that it is important to be aware of the possibility that the patient can have a normal postnatal blood karyotype and an abnormal phenotype with multiple malformations when trisomy 9 mosaicism is detected prenatally. When the baby's phenotype is abnormal, karyotyping on multiple tissues is useful for confirming clinical impression as well as determining the prognosis and providing accurate genetic counseling.

Original languageEnglish
Pages (from-to)115-117
Number of pages3
JournalCongenital Anomalies
Volume46
Issue number2
DOIs
Publication statusPublished - 2006 Jun

Fingerprint

Karyotype
Cytogenetics
Karyotyping
Amniocentesis
Phenotype
Arthrogryposis
Abnormal Karyotype
Abdominal Muscles
Cryptorchidism
Diaphragmatic Hernia
Interphase
Genetic Counseling
Abdominal Wall
Parents
Recurrence
Muscles
Trisomy mosaic Chromosome 9

Keywords

  • Amniocentesis
  • Mosaicism
  • Prenatal diagnosis
  • Trisomy 9

ASJC Scopus subject areas

  • Developmental Biology

Cite this

Kosaki, R., Hanai, S., Kakishima, H., Okada, M. A., Hayashi, S., Ito, Y., ... Okuyama, T. (2006). Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: Trisomy 9 mosaicism. Congenital Anomalies, 46(2), 115-117. https://doi.org/10.1111/j.1741-4520.2006.00111.x

Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood : Trisomy 9 mosaicism. / Kosaki, Rika; Hanai, Sae; Kakishima, Hiroki; Okada, Michiyo A.; Hayashi, Satoshi; Ito, Yushi; Takahashi, Takao; Kosaki, Kenjiro; Okuyama, Torayuki.

In: Congenital Anomalies, Vol. 46, No. 2, 06.2006, p. 115-117.

Research output: Contribution to journalArticle

Kosaki, Rika ; Hanai, Sae ; Kakishima, Hiroki ; Okada, Michiyo A. ; Hayashi, Satoshi ; Ito, Yushi ; Takahashi, Takao ; Kosaki, Kenjiro ; Okuyama, Torayuki. / Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood : Trisomy 9 mosaicism. In: Congenital Anomalies. 2006 ; Vol. 46, No. 2. pp. 115-117.
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