Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes

Jill K. Tapper, Shuliu Zhang, Hassan M. Harirah, Neli I. Panova, Linda S. Merryman, Judy C. Hawkins, Lillian H. Lockhart, Alfredo B. Gei, Gopalrao V.N. Velagaleti

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Wolf-Hirschhorn syndrome (WHS) and Patau syndrome are two of the most severe conditions resulting from chromosome abnormalities. WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. Though the etiologies of these syndromes differ, they share several features including pre- and postnatal growth retardation, microcephaly, cleft lip and palate, and cardiac anomalies. We present here a female fetus with deletion of 4p16 → pter and duplication of 13q32 → qter due to unbalanced segregation of t(4;13)(p16;q32) in the father. She displayed overlapping features of both of these syndromes on ultrasound. To the best of our knowledge, this is the first report of a fetus with both partial trisomy 13 and deletion of 4p16, the critical region for WHS.

Original languageEnglish (US)
Pages (from-to)347-351
Number of pages5
JournalFetal Diagnosis and Therapy
Volume17
Issue number6
DOIs
StatePublished - Dec 1 2002
Externally publishedYes

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Keywords

  • Partial monosomy 4p
  • Partial trisomy 13q
  • Patau syndrome
  • Wolf-Hirschhorn syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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