Prenatal ultrasonographic findings associated with Jacobsen syndrome

J. R. Wax, James Smith, Jr., R. C. Floyd, M. K. Eggleston

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We report the sonographic features of a fetus affected with Jacobsen syndrome that led to prenatal cytogenetic diagnosis. Among the observations include a *trigonocephalic cranium with marked hypotelorism; micrognathia and prominent anteverted nares; an echogenic protuberance in the midsternum suggestive of a fleshy mass; unusually short femur; and presence of polyhydramnios. The case presented demonstrates that partial monosomy for the distal long arm of chromosome 11 (Jacobsen syndrome), may be suspected on detection of associated prenatal sonographic findings. Ultimately, however, cytogenetic analysis is required for diagnosis. Identification of an unbalanced translocation in the fetus warrants genetic counseling and parental chromosomal analysis.

Original languageEnglish
Pages (from-to)256-258
Number of pages3
JournalJournal of Ultrasound in Medicine
Volume14
Issue number3
StatePublished - Mar 1995

Fingerprint

Jacobsen Distal 11q Deletion Syndrome
fetuses
Micrognathism
Fetus
cranium
protuberances
Polyhydramnios
femur
Chromosome Deletion
Chromosomes, Human, Pair 11
Cytogenetic Analysis
chromosomes
Genetic Counseling
Prenatal Diagnosis
Skull
Cytogenetics
Femur

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging
  • Acoustics and Ultrasonics
  • Radiological and Ultrasound Technology

Cite this

Prenatal ultrasonographic findings associated with Jacobsen syndrome. / Wax, J. R.; Smith, Jr., James; Floyd, R. C.; Eggleston, M. K.

In: Journal of Ultrasound in Medicine, Vol. 14, No. 3, 03.1995, p. 256-258.

Research output: Contribution to journalArticle

Wax, J. R. ; Smith, Jr., James ; Floyd, R. C. ; Eggleston, M. K. / Prenatal ultrasonographic findings associated with Jacobsen syndrome. In: Journal of Ultrasound in Medicine. 1995 ; Vol. 14, No. 3. pp. 256-258.
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