Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

Journal of Medical Genetics

Volumn 42, Issue 9, 2005, Pages 730-736

  Slavotinek, A ^a   Lee, S S ^a   Davis, R ^b   Shrit, A ^c   Leppig, K A ^d   Rhim, J ^d   Jasnosz, K ^e   Albertson, D ^b   Pinkel, D ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c MIAMI VALLEY HOSPITAL   (United States)

^d CENTER FOR HEALTH STUDIES   (United States)

^e ALLEGHENY GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 15Q; CHROMOSOME DELETION 8P; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; DIAGNOSTIC ACCURACY; FEMALE; FRYNS SYNDROME; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; KARYOTYPING; MALE; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; FEMALE; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT; KARYOTYPING; MALE; MICROSATELLITE REPEATS; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME;

EID: 24944579579     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.028787     Document Type: Article

References (27)

1. Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 1979;50:65-70.
2. Pinar H, Carpenter MW, Abuelo D, Singer DB. Fryns syndrome: a new definition. Pediatr Pathol 1994;14:467-78.
3. Slavotinek AM. Fryns syndrome - a review of the phenotype and diagnostic guidelines. Am J Med Genet 2004;124A:427-33.
4. Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 1998;79:215-25.
5. Lurie IW. Where to look for the genes related to diaphragmatic hernia? Genet Couns 2003;14:75-93.
6. Veldman A, Schloesser R, Allendorf A, Fischer D, Heller K, Schaeff B, Fuchs S. Bilateral congenital diaphragmatic hernia: differentiation between Pallister-Killian and Fryns syndrome. Am J Med Genet 2002;111:86-7.
7. Bettelheim D, Hengstschlager M, Drahonsky R, Eppel W, Bernaschek G. Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo). Clin Genet 1998;53:319-20.
8. Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E. Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn 2001;21:289-92.
9. Biggio JR Jr, Descartes MD, Carroll AJ, Holt RL. Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? Am J Med Genet 2004;126A:183-5.
10. Kristoffersson U, Heim S, Mandahl N, Sundkvist L, Szelest J, Hagerstrand I. Monosomy and trisomy of 15q24-qter in a family with a translocation t(6;15)(p25;q24). Clin Genet 1987;32:169-71.
11. Chen CP, Lee CC, Pan CW, Kir TY, Chen BF. Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Prenat Diagn 1998;18:1289-93.
12. Aviram-Goldring A, Daniely M, Frydman M, Shneyour Y, Cohen H, Barkai G. Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24). Am J Med Genet 2000;90:120-2.
13. Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry MC, Raclin V, Edery P, Munnich A, Vekemans M. Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature. Prenat Diagn 1998;18:1055-60.
14. Pecile V, Petroni MG, Fertz MC, Filippi G. Deficiency of distal 8p - report of two cases and review of the literature. Clin Genet 1990;37(4):271-8.
15. Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 1999;83:201-6.
16. Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Brondum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 1999;64:1119-26.
17. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001;29:263-4.
18. Bruder CE, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Moller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlen S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. High-resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 2001;10:271-82.
19. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20:207-11.
20. Jain AN, Tokuyasu TA, Snijders AM, Segraves R, Albertson DG, Pinkel D. Fully automatic quantification of microarray image data. Genome Res 2002;12:325-32.
21. Fitch N, Srolovitz H, Robitaille Y, Guttman F. Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. J Med Genet 1978;15:399-401.
22. Meinecke P, Fryns JP. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet 1985;28:516-20.
23. Dix U, Beudt U, Langenbeck U. Fryns syndrome - pre and postnatal diagnosis. Z Geburtshilfe Perinatol 1991;195:280-4.
24. Kershisnik MM, Craven CM, Jung AL, Carey JC, Knisely AS. Osteochondrodysplasia in Fryns syndrome. Am J Dis Child 1991;145:656-60.
25. Han J, Molkentin JD. Regulation of MEF2 by p38 MAPK and its implication in cardiomyocyte biology. Trends Cardiovasc Med 2000;10:19-22.
26. Pereira FA, Qiu Y, Znou G, Tsai MJ, Tsai SY. The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Genes Dev 1999;13:1037-49.
27. Giglio S, Grow SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 2000;102:432-7.