Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion

Taiwanese Journal of Obstetrics and Gynecology

Volumn 50, Issue 4, 2011, Pages 506-511

  Chen, Chih Ping ^a,b,c,d   Su, Yi Ning ^e   Chen, Yi Yung ^a   Su, Jun Wei ^a,f   Chern, Schu Rern ^a   Chen, Yu Ting ^a   Chen, Wen Lin ^a   Chen, Li Feng ^a   Wang, Wayseen ^a,g  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^g TATUNG UNIVERSITY   (Taiwan)

Author keywords

10p15.3 duplication; 4p deletion; 8p22 p21.3 duplication; Prenatal diagnosis; Wolf Hirschhorn syndrome

Indexed keywords

DNA;

ADULT; AMNIOCENTESIS; ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 10; CHROMOSOME 10P15.3; CHROMOSOME 4; CHROMOSOME 8P22; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME P21.3; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CYTOGENETICS; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GESTATIONAL AGE; HUMAN; HYPERTELORISM; HYPOSPADIAS; KARYOTYPE; KARYOTYPE 46,XY; MATERNAL AGE; MICRODUPLICATION; MICROGNATHIA; MIDFACE HYPOPLASIA; MOLECULAR GENETICS; PARENT; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; WOLF HIRSCHHORN SYNDROME;

ABORTION, EUGENIC; ADULT; AMNIOCENTESIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; FETAL DISEASES; GENETIC TESTING; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY; ULTRASONOGRAPHY, PRENATAL; WOLF-HIRSCHHORN SYNDROME;

EID: 84855220271     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.10.019     Document Type: Article

References (22)

1. Wolf U., Reinwein H., Porsch R., Schroter R., Baitsch H. Defizien an den kurzen Armen eines Chromosoms Nr 4. Humangenetik 1965, 1:397-413.
2. Hirschhorn K., Cooper H.L., Firschein I.L. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1965, 1:479-482.
3. Battaglia A., Filippi T., Carey J.C. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 2008, 148C:246-251.
4. Zollino M., Murdolo M., Marangi G., Pecile V., Galasso C., Mazzanti L., et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet 2008, 148C:257-269.
5. Stec I., Wright T.J., van Ommen G.-J.B., de Boer P.A.J., van Haeringen A., Moorman A.F.M., et al. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet 1998, 7:1071-1082.
6. Wright T.J., Ricke D.O., Denison K., Abmayr S., Cotter P.D., Hirschhorn K., et al. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 1997, 6:317-324.
7. Wright T.J., Costa J.L., Naranjo C., Francis-West P., Altherr M.R. Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region. Genomics. 1999, 59:203-212.
8. Zollino M., Lecce R., Fischetto R., Murdolo M., Faravelli F., Selicorni A., et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003, 72:590-597.
9. 2+-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 1999, 60:218-225.
10. Chen C.-P., Chern S.-R., Lee C.-C., Chen W.-L., Chen M.-H., Chang K.-M. De novo unbalanced translocation resulting in monosomy for proximal 14q and monosomy for distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy and partial hemihypoplasia. J Med Genet 1998, 35:1050-1053.
11. Chen C.-P., Hsu C.-Y., Lee C.-C., Chen W.-L., Chen L.-F., Wang W. 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. Prenat Diagn 2004, 24:934-936.
12. Chen C.-P., Chen Y.-J., Tsai F.-J., Chern S.-R., Chang T.-Y., Lee C.-C., et al. Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand foot malformation associated with partial monosomy 4p (4p16.1→pter) and partial trisomy 10q (10q25.1→qter). Prenat Diagn 2008, 28:450-453.
13. De Keersmaecker B., Albert M., Hillion Y., Ville Y. Prenatal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn 2002, 22:366-370.
14. Boog G., Le Vaillant C., Collet M., Dupré P.F., Parent P., Bongain A., et al. Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome. Fetal Diagn Ther 2004, 19:421-430.
15. Dietze I., Fritz B., Huhle D., Simoens W., Piecha E., Rehder H. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Fetal Diagn Ther 2004, 19:251-260.
16. South S.T., Corson V.L., McMichael J.L., Blakemore K.J., Stetten G. Prenatal detection of an interstitial deletion in 4p15 in a fetus with an increased nuchal skin fold measurement. Fetal Diagn Ther 2005, 20:58-63.
17. Kato T., Emi M., Sato H., Arawaka S., Wada M., Kawanami T., et al. Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2010, 402:438-442.
18. Sharp A.J., Locke D.P., McGrath S.D., Cheng Z., Bailey J.A., Vallente R.U., et al. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005, 77:78-88.
19. Itsara A., Cooper G.M., Baker C., Girirajan S., Li J., Absher D., et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009, 84:148-161.
20. Giglio S., Calvari V., Gregato G., Gimelli G., Camanini S., Giorda R., et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002, 71:276-285.
21. Maas N.M.C., Van Vooren S., Hannes F., Van Buggenhout G., Mysliwiec M., Moreau Y., et al. The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random. Genet Couns 2007, 18:357-365.
22. Hollox E.J., Armour J.A., Barber J.C. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 2003, 73:591-600.