Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops

Fetal Diagnosis and Therapy

Volumn 24, Issue 3, 2008, Pages 250-253

  Russell, Zoi ^a,c   Kontopoulos, Eftichia V ^a   Quintero, Rubén A ^a   Debauche, David M ^b   Ranells, Judith D ^a  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c NONE   (United States)

Author keywords

4q deletion; 4q syndrome; Chromosome 4; Hydrops fetalis; Terminal deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 4Q; CHROMOSOME DELETION; FETUS HYDROPS; FLUORESCENCE IN SITU HYBRIDIZATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRAMNIOS; KARYOTYPE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; AMNIOCENTESIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HUMANS; HYDROPS FETALIS; KARYOTYPING; PREGNANCY; SYNDROME;

EID: 50549092960     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000151671     Document Type: Article

References (24)

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 nonimmunologic 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.