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Vol. 24, No. 3, 2008
Issue release date: October 2008
Fetal Diagn Ther 2008;24:250–253

Prenatal Diagnosis of a 4q33–4qter Deletion in a Fetus with Hydrops

Russell Z. · Kontopoulos E.V. · Quintero R.A. · DeBauche D.M. · Ranells J.D.
aMaternal Fetal Medicine Division, Department of Obstetrics and Gynecology, University of South Florida, bGenzyme Genetics, cDivision of Genetics, Department of Pediatrics, University of South Florida, Tampa, Fla., USA

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Objective: The 4q– syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Cases with 4q deletions represent a diverse group that share several phenotypic characteristics. We report the prenatal diagnosis of an isolated terminal 4q33 deletion in a fetus with hydrops. Method: A comprehensive workup, including an amniocentesis, was performed on a 32-week fetus presenting with massive hydrops and polyhydramnios. Results: The karyotype obtained from the amniotic fluid showed an unusual banding pattern on chromosome 4q. Fluorescent in situ hybridization revealed a 4q33-qter deletion. The proband shared several of the phenotypic characteristics of the 4q– syndrome. Multidisciplinary evaluation of the newborn confirmed the genotype and failed to identify another cause for the hydrops. Conclusion: We suggest that the broad spectrum of phenotypes expressed by patients with terminal 4q33 deletions includes hydrops fetalis.

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  1. Strehle EM, Bantock HM: The phenotype of patients with 4q-syndrome. Genet Couns 2003;14:195–205.
  2. Jones KL, Smith DW: Smith’s Recognizable Patterns of Human Malformation, ed 6. Philadelphia, Elsevier Saunders, 2006.
  3. Menko FH, Madan K, Baart JA, Beukenhorst HL: Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter. Am J Med Genet 1992;44:696–698.
  4. Evers LJ, Schrander-Stumpel CT, Engelen JJ, Mulder H, Borghgraef M, Fryns JP: Terminal deletion of long arm of chromosome 4: patient report and literature review. Genet Couns 1993;4:139–145.
  5. Grammatico P, Spaccini L, Di Rosa C, Cupilari F, Del Porto G: Del(4)(pter–>q33:) case report and review of the literature. Genet Couns 1997;8:39–42.
  6. Keeling SL, Lee-Jones L, Thompson P: Interstitial deletion 4q32–34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome. Am J Med Genet 2001;99:94–98.
  7. Machin GA: Hydrops revisited: literature review of 1,414 cases published in the 1980s. Am J Med Genet 1989;34:366–390.
  8. Schwanitz G, Zerres K, Gembruch U, Bald R, Hansmann M: Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli. Hum Genet 1989;84:81–82.
  9. Van Maldergem L, Jauniaux E, Fourneau C, Gillerot Y: Genetic causes of hydrops fetalis. Pediatrics 1992;89:81–86.
  10. Anandakumar C, Biswas A, Wong YC, Chia D, Annapoorna V, Arulkumaran S, Ratnam S: Management of non-immune hydrops: 8 years’ experience. Ultrasound Obstet Gynecol 1996;8:196–200.
  11. Iskaros J, Jauniaux E, Rodeck C: Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy. Obstet Gynecol 1997;90:321–325.
  12. Heinonen S, Ryynanen M, Kirkinen P: Etiology and outcome of second trimester non-immunologic fetal hydrops. Acta Obstet Gynecol Scand 2000;79:15–18.
  13. Jenderny J, Schmidt W, Hecher K, Hackeloer BJ, Kerber S, Kochhan L, Held KR: Increased nuchal translucency, hydrops fetalis or hygroma colli. A new test strategy for early fetal aneuploidy detection. Fetal Diagn Ther 2001;16:211–214.
  14. Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD: Etiology and outcome of hydrops fetalis. J Matern Fetal Med 2001;10:175–181.
  15. Sohan K, Carroll SG, De La Fuente S, Soothill P, Kyle P: Analysis of outcome in hydrops fetalis in relation to gestational age at diagnosis, cause and treatment. Acta Obstet Gynecol Scand 2001;80:726–730.
  16. Drut RM, Drut R: Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH. Am J Med Genet 1996;62:145–149.
  17. Witters I, Van Buggenhout G, Moerman P, Fryns JP: Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy. Prenat Diagn 1998;18:1304–1307.
  18. Mitchell JA, Packman S, Loughman WD, Fineman RM, Zackai E, Patil SR, Emanual B, Bartley JA, Hanson JW: Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 1981;8:73–89.
  19. Finley BE, Seguin JH, Bennett TL, Ardinger R, Burlbaw J, Levitch L, Keifer C, Pasztor L: Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops. Am J Med Genet 1993;47:221–222.
  20. Suwanrath-Kengpol C, Limprasert P, Mitarnun W: Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis. Prenat Diagn 2004;24:887–889.
  21. Duval E, van den Enden A, Vanhaesebrouck P, Speleman F: Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis. Am J Med Genet 1994;52:214–217.
  22. Hindi A, Beneck D, Greco MA, Wolman SR: 18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings. J Med Genet 1986;23:263–266.
  23. Yang YH, Teng RJ, Tang JR, Yau KI, Huang LH, Hsieh FJ: Etiology and outcome of hydrops fetalis. J Formos Med Assoc 1998;97:16–20.
  24. Dashe JS, McIntire DD, Ramus RM, Santos-Ramos R, Twickler DM: Hydramnios: anomaly prevalence and sonographic detection. Obstet Gynecol 2002;100:134–139.

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