Prenatal diagnosis of de novo pure partial monosomy 4p (4p15.1 → pter) in a growth-restricted fetus with a Greek warrior helmet face and unilateral facial cleft on three-dimensional ultrasound [9]

Prenatal Diagnosis

Volumn 24, Issue 11, 2004, Pages 934-936

  Chen, Chih Ping ^a,b   Hsu, Chin Yuan ^a   Lee, Chen Chi ^a   Chen, Wen Lin ^a   Chen, Li Feng ^a   Wang, Wayseen ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; BIOMETRY; CASE REPORT; CLEFT FACE; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; HUMAN; HYPERTELORISM; INTRAUTERINE GROWTH RETARDATION; LETTER; PARTIAL MONOSOMY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING;

ABNORMALITIES, MULTIPLE; ABORTION, INDUCED; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CLEFT LIP; DIAGNOSIS, DIFFERENTIAL; FACE; FEMALE; FETAL GROWTH RETARDATION; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS;

EID: 9644270382     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.975     Document Type: Letter

References (12)

1. Aslan H, Karaca N, Basaran S, Ermis H, Ceylan Y. 2003. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. BMC Pregnancy Childbirth 3: 1.
2. Blunt S, Berry AC, Seller MJ, Williams CAV. 1977. Prenatal recognition of 4p- syndrome. J Med Genet 14: 232-233.
3. De Keersmaecker B, Albert M, Hillion Y, Ville Y. 2002. Prenatal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn 22: 366-370.
4. Dietze I, Fritz B, Huhle D, Simoens W, Piecha E, Rehder H. 2004. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Fetal Diagn Ther 19: 251-260.
5. Eiben B, Leipoldt M, Schübbe I, Ulbrich R, Hansmann I. 1988. Partial deletion of 4p in fetal cells not present in chorionic villi. Clin Genet 33: 49-52.
6. Phelan MC, Saul RA, Gailey TA, Skinner SA. 1995. Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21. Prenat Diagn 15: 274-277.
7. Schinzel A. 2000. Discrepancies in cytogenetic results between different tissues in two fetuses with Wolf-Hirschhorn syndrome. Cytogenet Cell Genet 91: 231-233.
8. Sergi C, Schulze BRB, Hager H-D, et al. 1998. Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects. Pathologica 90: 285-293.
9. Snijders RJM, Sherrod C, Gosden CM, Nicolaides KH. 1993. Fetal growth retardation: associated malformations and chromosomal abnormalities. Am J Obstet Gynecol 168: 547-555.
10. Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C. 1992. The Wolf-Hirschhorn syndrome in fetuses. Clin Genet 42: 281-287.
11. Verloes A, Schaaps JP, Herens C, Soyeur D, Hustin J, Dodinval P. 1991. Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome. Prenat Diagn 11: 129-132.
12. Wright TJ, Ricke DO, Denison K, et al. 1997. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 6: 317-324.