Where to look for the genes related to diaphragmatic hernia?

Genetic Counseling

Volumn 14, Issue 1, 2003, Pages 75-93

  Lurie, I W ^a,b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b NONE   (United States)

Author keywords

Chromosomal rearrangements; Diaphragmatic hernia

Indexed keywords

AUTOSOMAL DISORDER; CHROMOSOME 15Q; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 2P; CHROMOSOME 3Q; CHROMOSOME 4P; CHROMOSOME 4Q; CHROMOSOME 8P; CHROMOSOME 8Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DIAPHRAGM HERNIA; DISEASE ASSOCIATION; GENE LOCATION; HUMAN; REVIEW; TETRASOMY;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME MAPPING; GENE REARRANGEMENT; HERNIA, DIAPHRAGMATIC; HUMANS; SYNDROME; TRISOMY;

EID: 0037239611     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (109)

1. ALFI O., DONNELL G.N., ALLDERDICE P.W., DERENCSENYI A.: The 9p-deletion syndrome. Ann. Génét., 1976, 19, 11-16.
2. ALFI O., DONNELL G.N., CRANDALL B.F., DERENCSENYI A., MENON R.: Deletion of the short arm of chromosome #9 (46, 9p-): A new deletion syndrome. Ann. Génét., 1973, 16, 17-22.
3. 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). Amer. J. Med. Genet., 2000, 90, 120-122.
4. AURIAS A., TURC C., MICHIELS Y., SINET P.-M., GRAVELEAU D., LEJEUNE J.: Deux cas de trisomie 11q (q231→qter) par translocation t(11;22)(q231:q111) dans deux familles différentes. Ann. Génét., 1975, 18, 185-188.
5. AZANCOT A., EYDOUX P., VUILLARD E., CUSIN V., BAUMANN C., BLOT P.: Spectre clinique de la tétralogie de Fallot anténatale. Arch. Malad. Cœur Vais., 2000, 93, 587-593.
6. BALDERMANN C., TAEGE C., MUSIL A., RATH F., HANSMANN I.: Ring chromosome 17 with monosomy 17 associated with unusual severe malformations. Amer. J. Hum. Genet., 2000, 67, Suppl. 2, 160.
7. BARUCH A.C., ERICKSON R.P.: Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). Amer. J. Med. Genet., 2001, 100, 187-190.
8. BATANIAN J.R., GRANGE D.K., FLEMING R., GADRE B., WETZEL J.: Two unbalanced translocations involving a common 6p25 region in two XY female patients. Clin. Genet., 2001, 59, 52-57.
9. BENDER K., REINWEIN H., GORMAN L.Z., WOLF U.: Familiäre 2/C-Translokation: 46,XY t(2p-;Cp+) und 46,XX Cp+. Humangenetik, 1969, 8, 94-104.
10. BERGOFFEN J., PUNNETT H., CAMPBELL T.J., ROSS A.J., RUCHELLI E., ZACKAI E.H.: Diaphragmatic hernia in tetrasomy 12p mosaicism. J. Pediatr., 1993, 122, 603-606.
11. BETTELHEIM D., HENGSTSCHLÄGER 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, 319-320.
12. BOYAR F.Z., WHITNEY M.M., LOSSIE A.C., GRAY B.A., KELLER K.L., STALKER H.J., ZORI R.T., GEFFKEN G., MUTCH J., EDGE P.J., VOELLER K.S., WILLIAMS C.A., DRISCOLL D.J.: A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin. Genet. 2001, 60, 421-430.
13. BRACKLEY K.J., KILBY M.D., MORTON J., WHITTLE M.J., KNIGHT S.J.L., FLINT J.: A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation. Prenat. Diag., 1999, 19, 570-574.
14. BRENNAN P., CROAKER G.D., HEATH M.: Congenital diaphragmatic hernia and interstitial deletion of chromosome 3. J. Med. Genet. 2001, 38, 556-558.
15. CAPELLINI A., SALA E., COLOMBO D., VILLA N., MARIANI S.: Monosomy 8q and features of Fryns' syndrome. Eur. J. Hum. Genet., 1996, 4, Suppl. 1, 29.
16. CELLE L., LEE L., RINTOUL N., SAVANI R.C., LONG W., MENNUTI M.T., KRANTZ I.D.: Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes. Amer. J. Med. Genet., 2000, 94, 125-140.
17. CHEN C.-P., LEE C.-C., PAN C.-W., KIR T.-Y., CHEN B.-F.: Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Prenatal Diag., 1998, 18, 1289-1293.
18. CLARK R.D., FENNER-GONZALES M.: Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-q31.2. Amer. J. Med. Genet., 1989, 34, 422-426.
19. CORNING K., TOBUREN A., CLARKSON K.: Lethal Pallister-Killian syndrome masquerading as Fryns syndrome. Proc. Greenwood Genet. Center, 1999, 19, 24-26.
20. DEAN J.C.S., COUZIN D.A., GRAY E.S., LLOYD D.J., STEPHENS G.S.: Apparent Fryns' syndrome and aneuploidy: Evidence for a disturbance of the midline developmental field. Clin. Genet., 1991, 40, 349-352.
21. DE BEAUFORT C., SCHNEIDER F., CHAFAI R., COLETTE J.M., DELNESTE D., PIERQUIN G.: Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. Genet. Counsel., 2000, 11, 181-182.
22. DECKER-PHILLIPS M., MCCONKIE-ROSELL A., QUMSIYEH M.B., IAFOLLA A.K.: Novel unbalanced translocation: 46,XX,der(11)t(11;12)(q24-p11.2). Am. J. Hum. Genet., 1995, 57, Suppl., A309.
23. DE JONG G., ROSSOUW R.A., RETIEF A.E.: Ring chromosome 15 in a patient with features of Fryns syndrome. J. Med. Genet., 1989, 26, 469-470.
24. DEL CAMPO M., DE FRUTOS C., DELICADO A., GARCIA P., CABANAS F., QUERO J.: The 4q- syndrome associated with congenital diaphragmatic hernia and dysgenesis of the corpus callosum. Proc. Greenwood Genet. Center. 1997, 16, 217-218.
25. DILLON E., RENWICK M., WRIGHT C.: Congenital diaphragmatic herniation: antenatal detection and outcome. Brit. J. Radiol., 2000, 73, 360-365.
26. DONNENFELD A.E., CAMPBELL T.J., BYERS J., LIBRIZZI R.J., WEINER S.: Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia. Amer. J. Obstet. Gynecol., 1993, 169, 1017-1021.
27. ENNS G.M., COX V.A., GOLDSTEIN R.B., GIBBS D.L., HARRISON M.R., GOLABI M.: Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review. Amer. J. Med. Genet., 1998, 79, 215-225.
28. FAIVRE L., MORICHON-DELVALLEZ N., VIOT G., MARCY F., LOISON S., MANDELBROT L., AUVRY M.C., 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. Prenatal Diagnosis, 1998, 18, 1055-1060.
29. FRACCARO M., LINDSTEN J., FORD C.E., ISELIUS L.: The 11q;22q translocation: A European collaborative analysis of 43 cases. Hum. Genet., 1980, 56, 21-51.
30. FRAER L., MARCHESE S., JUDA S., SURTI U., HUFF D., SHERMAN F., MARTIN J., HILL L.M.: Prenatal diagnosis of a de novo 8p23.1 distal deletion. Am. J. Hum. Genet., 1992, 51, Suppl., A408.
31. FRINTS S.G.M., SCHRANDER-STUMPEL C.T.R.M., ENGELEN J.J.M., DA COSTA A.J., FRYNS J.P.: Partial trisomy and partial monosomy of the long arm of chromosome 4: Patient report and literature review. Genet. Counsel., 1996, 7, 135-142.
32. FRYNS J.P., HASPESLAGH M., GODDEERIS P., VAN AERDE J., EGGERMONT E., VAN DEN BERGHE H.: Balanced and unbalanced pericentric inversion of chromosome 11. Ann. Génét., 1981, 24, 182-183.
33. GENEIX A., GOBURDHUN J., FALLET C., LACROUTE G., SATGE D.: A fetus with pseudo Fryns syndrome and t(18;22) translocation. Genet. Counsel., 2001, 12, 169-171.
34. GOLOMBEK S., SHAW R.: Trisomy 22 in an Iowa newborn. Iowa Medicine, 1994, 84, 31-33.
35. GREVENGOOD C., DALTON J.D., DUNGAN J.S., PARK V.M., THARAPEL A.T., MARTENS P., WARD J.C., SHULMAN L.P., SIMPSON J.L., ELIAS S.: Prenatal detection of a de novo supernumerary marker chromosome as der(2)(p13q12) in a fetus with abnormal facies, single umbilical artery and diaphragmatic hernia. Am. J. Hum. Genet., 1993, 53, Suppl. 1796.
36. GUSTAVSON K.-H., ANNERÉN G., WRANNE L.: Two cases of 11p13 interstitial deletion and unusual clinical features. Clin. Genet., 1984, 26, 247-249.
37. HABEDANK M., TROST-BRINKHUES G.: Monosomy 18p and pure trisomy 18p in a family with translocation (7;18). J. Med. Genet., 1983, 20, 377-379.
38. HARNSBERGER J., CAREY J.C., MORGAN M.: Interstitial deletion of the long arm of the number 8 chromosome and the Langer-Giedion syndrome. [Cited by WILSON G.N., WYANDT H.E., SHAH H.: Interstitial deletion of 8q. Am. J. Dis. Child., 1983, 137, 444-448].
39. HARNSBERGER J., CAREY J.C., MORGAN M.: Interstitial deletion of the long arm of the number 8 chromosome and the Langer-Giedion syndrome. [Cited by WILSON G.N., WYANDT H.E., SHAH H.: Interstitial deletion of 8q. Am. J. Dis. Child., 1983, 137, 444-448].
40. HAYASHI S., HYODO M., KINUTANI M., FUJIWARA H., DATE K., MIZUONE T., KISAKA Y., URABE T., MIHARU N., OHAMA K.: Characterization of isochromosome 18q in prenatal diagnosis by G-banding method and fluorescence in situ hybridization. Jpn. J. Hum. Genet., 1997, 42, 127.
41. HEATHCOTE J.G., SHOLDICE J., WALTON J.C., WILLIS N.R., SERGOVICH F.R.: Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Can. J. Ophthalmol., 1991, 26, 35-43.
42. HERRMANN M., WITTWER B., EXELER J., FABRITZ L., HORST J.: De novo duplication 7 (p15p22) in a child with a diaphragmatic hernia. Med. Genet., 1999, 11, 166.
43. HICKMAN G., MAZAURIC M., WEIK S., BARTSCH O., KOZLOWSKI P.: Prenatal characterisation of 27 autosomal marker chromosomes and outcomes of pregnancies. Eur. J. Hum. Genet., 2001, 9, Suppl. 1, 230.
44. HILFIKER M.L., KARAMANOUKIAN H.L., HUDAK M., FISHER J., GLICK P.L.: Congenital diaphragmatic hernia and chromosomal abnormalities: report of a lethal association. Pediatr. Surg. Int., 1998, 13, 550-552.
45. HOWE D.T., KILBY M.D., SIRRY H., BARKER G.M., ROBERTS E., DAVISON E.V., MCHUGO J., WHITTLE M.J.: Structural chromosome anomalies in congenital diaphragmatic hernia. Prenatal Diag., 1996, 16, 1003-1009.
46. ISELIUS L., LINDSTEN J., AURIAS A., FRACCARO M., BASTARD C., BOTTELLI A.M., BUI T.-H., CAUFIN D., DALPRÀ L., DELENDI N., DUTRILLAUX B., FUKUSHIMA Y., GERAEDTS J.P.M., DE GROUCHY J., GYFTODIMOU J., HANLEY A.L., HANSMANN I., ISHII T., JALBERT P., JINGELESKY S., KAJII T., von KOSKULL H., NIIKAWA N., NOEL B., PASQUALI F., PROBECK H.D., ROBINSON A., RONCARATI E., SACHS E., SCAPPATICCI S., SCHWINGER E., SIMONI G., VEENEMA H., VIGI V., VOLPATO S., WEGNER R.-D., WELCH J.P., WINSOR E.J.T., ZHANG S., ZUFFARDI O.: The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families. Hum. Genet., 1983, 64, 343-355.
47. JOHNSON J.A., BEERE K., GUNAWARDENE R., ISRAEL J., ABASSI I.: Newborn female with partial trisomy 2q33-2q37 presenting with diaphragmatic hernia and mild dysmorphic features. Am. J. Hum. Genet., 1992, 51, Suppl. A290.
48. KIM E.H., COHEN R.S., RAMACHANDRAN P., MINETA A.K., BABU V.R.: Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a live-born premature infant. Am. J. Med. Genet., 1992, 44, 437-438.
49. KJAER I., KEELING J.W., GRAEM N.: The midline craniofacial skeleton in holoprosencephalic fetuses. J. Med. Genet., 1991, 28, 846-855.
50. KLEP-DE PATER J.M., BIJLSMA J.B., BLEEKER-WAGEMAKERS E.M., DE FRANCE H.F., DE VRIESEKKERS C.M.A.M.: Two cases with different deletions of the long arm of chromosome 7. J. Med. Genet., 1979, 16, 151-154.
51. KOBORI J.A., SETO-DONLON S., GREGORY T., BANGS D., DONLON T.A., HSIEH C.-L.: A case of monosomy 4p and trisomy 4q derived from a meiotic recombination. Am. J. Hum. Genet., 1993, 53, Suppl., 1578.
52. KOCKS A., ENDELE S., SCHRÖDER B., HELLER R., MAKRIGEORGI-BUTERA M., STAEDLER C., SCHÄFER H., WINTERPRACHT A.: A mosaic ring chromosome 4 in a fetus with Wolf-Hirschhorn phenotype - molecular and cytogenetic analysis. Eur. J. Hum. Genet., 2001, 9, Suppl. 1, 206.
53. KÖRNER H., TINSCHERT S., SIEBKE K., BOLLMANN R., CHAOUI R., WILKE T.: Pränatale Diagnose einer partiellen Trisomie 5q mit Zwerchfelldefekt. Z. Klin. Med., 1991, 46, 427-429.
54. KOUSSEFF B.G.: Congenital diaphragmatic hernia in genetics. Proc. Greenwood Genet. Center, 2000, 19, 130-131.
55. KRASSIKOFF N., SEKHON G.S.: Terminal deletion of 6q and Fryns syndrome: A microdeletion/syndrome pair? Amer. J. Med. Genet., 1990, 36, 363-364.
56. KRISTESASHVILI J.I., GORGADZE I.S., KHARABADZE K.M.: A case of partial trisomy for a long arm of chromosome 5 as a result of a balanced translocation t(3;5)(q27;q31) in a father. In: The Register of Chromosomal Disorders in Man, Moscow, 1984, 100-101.
57. KRISTOFFERSSON U., HEIM S., MANDAHL N., SUNDKVIST L., SZELEST J., HÄGERSTRAND I.: Monosomy and trisomy of 15q24→qter in a family with a translocation t(6:15)(p25:q24). Clin. Genet. 1987, 32, 169-171.
58. LADONNE J.M., GAILLARD D., CARRÉ-PIGEON F., GABRIEL R.: Fryns syndrome phenotype and trisomy 22. Am. J. Med. Genet., 1996, 61, 68-70.
59. LIBERFARB R.M., ATKINS L., HOLMES L.B.: A clinical syndrome associated with 5p duplication and 9p deletion. Ann. Génét., 1980, 23, 26-30.
60. LOCKHART L.H., HAWKINS J., ZHANG S., TONK V.S., VELAGALETI G.V.N.: Partial monosomy 4p with no overt phenotype of Wolf-Hirschhorn syndrome and/or Pitt-Rogers-Danks syndrome. Am. J. Hum. Genet., 2001, 69, Suppl. 321.
61. LURIE I.W., LAZJUK G.I., GUREVICH D.B., KRAVTZOVA G.I., NEDZVED M.K., SHVED I.A.: Partial trisomy 10p in two generations. Hum. Genet., 1978, 41, 235-241.
62. MAERZKE S., NEUMANN L., HOFSTAETTER C., PLIETH M., REIS A., WEGNER R.-D.: A novel partial monosomy 8q ascertained by sonographic abnormalities. Med. Genet., 1993, 5, 121.
63. MASADA C.T., OLNEY A.H., FORDYCE R., SANGER W.G.: Partial deletion of 14q and partial duplication of 14q in sibs: Testicularmosaicism for t(14q;14q) as a common mechanism. Am. J. Med. Genet., 1989, 34, 528-534.
64. MASUNO M., CHOLSONG Y., KUWAHARA T., SHIMIZU N., YAMAGUCHI S., KAWABATA I., TAMAYA T., MORISHITA Y., YOSHIMI N., ORII T.: Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation. Am. J. Med. Genet., 1991, 41, 32-34.
65. MEGARBANE A., SALEM N., STEPHAN E., ASHOUSH R., LENOIR D., DELAGUE V., KASSAB R., LOISELET J., BOUVAGNET P.: X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur. J. Hum. Genet., 2000, 8, 704-708.
66. MEHRAEIN Y., MORLOT S., MILLER K.: De novo duplication of a band fragment of the long arm of chromosome 1. Med. Genet., 2000, 12, 96.
67. MIGLIAZZA L., OTTEN C., XIA H., RODRIGUEZ J.I., DIEZ-PARDO J.A., TOVAR J.A.: Cardiovascular malformations in congenital diaphragmatic hernia: Human and experimental studies. J. Pediatr. Surg., 1999, 34, 1352-1358.
68. MOOG U., DE DIE-SMULDERS C.E.M., SCHRANDER-STUMPEL C.T.R.M., ENGELEN J.J.M., HAMERS A.J.H., FRINTS S., FRYNS J.P.: Holoprosencephaly: The Maastricht experience. Genet. Counsel., 2001, 12, 287-298.
69. MORENO FUENMAYOR H., MEILINGER K.L., RUCKNAGEL D.L., MOHRENWEISER H.L., CHU E.H.Y.: Duplication 8p syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12. Am. J. Med. Genet., 1980, 7, 361-368.
70. NISHIMURA D.Y., SEARBY C.C., ALWARD W.L., WALTON D., CRAIG J.E., MACKEY D.A., KAWASE K., KANIS A.B., PATIL S.R., STONE E.M., SHEFFIED V.C.: A spectrum of FOXC1 mutations suggest gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am. J. Hum. Genet., 2001, 68, 364-372.
71. NOEL B., LEVY M., RETHORÉ M.-O.: Trisomie partielle du bras long du chromosome 11 par malségrégation d'une translocation maternelle t(11;22)(q231;q111). Ann. Génét., 1976, 19, 137-139.
72. ODENT S., ATTIE-BITACH T., BLAYAU M., MATHIEU M., AUGE J., DELEZOÏDE A.L., LE GALL J.Y., LE MAREC B., MUNNICH A., DAVID V., VEKEMANS M.: Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum. Molec. Genet., 1999, 8, 1683-1689.
73. PARK J.P., MCDERMET M.K., DOODY A.M., MARINPADILLA J.M., MOESCHLER J.B., WURSTER-HILL D.H.: Familial t(11:13)(q21;q14) and the duplication 11q,13q phenotype. Am. J. Med. Genet., 1993, 45, 46-48.
74. PATIL S., ZENG S.M., YANKOWITZ J., FREY C., MURRAY J.C.: Prenatal detection of mosaic translocation trisomy 1q in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic mitotic error. Am. J. Hum. Genet., 1998, 63, Suppl., A10.
75. PECILE V., PETRONI M.G., FERTZ M.C., FILIPPI G.: Deficiency of distal 8p-: Report of two cases and review of the literature. Clin. Genet., 1990, 37, 271-278.
76. PETTIGREW A.L.: Trisomy 3p: Two new cases and review of the literature. Am. J. Hum. Genet., 1992, 51, Suppl., A86.
77. PFEIFFER R.A., RAUCH A., ULMER R., BEINDER E., TRAUTMANN U.: Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3) (p24.1p12.1p21.31). Ann. Génét., 1998, 41, 17-21.
78. PHELAN M.C., ROGERS R.C., FLANNERY D.B., ALBIEZ K., BYRD J.R.: An 11q;22q translocation in two families. Proc. Greenwood Genet. Center, 1987, 6, 22-26.
79. PHILLIPSON J., BENIRSCHKE K., BOGART M.: Two live-born infants with trisomy 22. Pediatr. Pathol., 1990, 10, 1001-1005.
80. RAMSING M., GILLESSEN-KAESBACH G., HOLZGREVE W., FRITZ B., REHDER H.: Variability of the phenotypic expression of Fryns syndrome: A report of two sibships. Am. J. Med. Genet., 2000, 95, 415-424.
81. REISS R.E., WILKINS-HAUG L., QUACKENBUSH E., KORF B., SANDSTROM M., WEREMOWICZ S., GENEST D.: Fryns syndrome: Association with unbalanced translocations trisomic for 20q13.1-qter in two unrelated families. Am. J. Hum. Genet., 1999, 65, Suppl., A-340.
82. RINGER K., ROGERS J., PASZTOR L.M.: Inversion duplication chromosome 8 with diaphragmatic hernia. Am. J. Hum. Genet., 1995, 57, Suppl., A124.
83. RODRÍGUEZ J.I., GARCIA I., ALVEREZ J., DELICADO A., PALACIOS J.: Lethal Pallister-Killian syndrome: Phenotypic similarity with Fryns syndrome. Am. J. Med. Genet., 1994, 53, 176-181.
84. ROGERS J.C., HARRIS D.J., PASZTOR L.M.: Interstitial deletion of the long arm of chromosome 1: del(1)(pter→42.11::q42.3→qter). Am. J. Hum. Genet. 1995, 57, Suppl., A125.
85. ROSENBERG C., BLAKEMORE K.J., KEARNS W.G., GIRALDEZ R.A., ESCALLON C.S., PEARSON P.L., STETTEN G.: Analysis of reciprocal translocations by chromosome painting: Applications and limitations of the techniques. Am. J. Hum. Genet., 1992, 50, 700-705.
86. SARDA P., LEFORT G., DEVAUX P., HUMEAU C., RIEU D.: Multiple congenital anomalies due to partial 2p13→2pter duplication resulting from an unbalanced X;2 translocation. Ann. Génét., 1992, 35, 117-120.
87. SCHINZEL A., SCHMID W., AUF DER MAUR P., MOSER H., DEGENHARDT K.H., GEISLER M., GRUBISIC A.: Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum. Genet., 1981, 56, 249-262.
88. SCHLEMBACH D., ZENKER M., TRAUTMANN U., ULMER R., BEINDER E.: Deletion 15q24-q26 in prenatally detected diaphragmatic hernia: Increasing evidence of a candidate region for diaphragmatic development. Prenatal Diag., 2001, 21, 289-292.
89. SCHNEIDER N., SUHR L., HAWKINS H., HUGHES M.: A second case of Fryns syndrome associated with a duplication of 1q22-32: A karyotype association for diaphragmatic hernia. Am. J. Hum. Genet. 1991, 49, Suppl. 275.
90. SHEN-SCHWARZ S., HILL L.M., SURTI U., MARCHESE S.: Deletion of terminal portion of 6q: Report of a case with unusualmalformations. Am. J. Med. Genet., 1989, 32, 81-86.
91. SMITH N.M., FERNANDEZ H., CHAMBERS H.M., CALLEN D.F.: Necropsy findings in a fetus with a 46,XY,dic t(X:21)(p11.1;p11.1). J. Med. Genet., 1992, 29, 503-506.
92. SMITH S.A., MARTIN K.E., DOLL K.L., YOUNG I.D.: Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin. Dysmorphol., 1994, 3, 287-291.
93. STEINHORN R.H., KRIESMER P.J., GREEN T.P., McKAY C.J., PAYNE N.R.: Congenital diaphragmatic hernia in Minnesota. Arch. Pediatr. Adolesc. Med., 1994, 148, 626-631.
94. TACHDJIAN G., FONDACCI C., TAPIA S., HUTEN Y., BLOT P., NESSMANN C.: The Wolf-Hirschhorn syndrome in fetuses. Clin. Genet., 1992, 42, 281-187.
95. TAKAKUWA K., HATAYA I., ARAKAWA M., TAMURA M., SEKIZUKA N., TANAKA K.: A case of mosaic tetrasomy 12p (Pallister-Killian syndrome) diagnosed prenatally: Comparison of chromosome analyses of various cells obtained from the patient. Am. J. Perinat., 1997, 14, 641-643.
96. TEMPLE J.K., BARBER J.C.K., JAMES R.S., BURGE D.: Diaphragmatic herniae and translocations involving 8q22 in two patients. J. Med. Genet., 1994, 31, 735-737.
97. TOHMA T., OHASHI H., HASEGAWA T., NAGAI T., FUKUSHIMA Y., NARITOMI K.: Two cases of mosaic partial tetrasomy 13q associated with an acentric marker chromosome. Am. J. Hum. Genet., 1998, 64, Suppl., A862.
98. TOPFS C.P., CURRY C.J.R., BATESON T.F., HONORÉ L.H.: A population-based study of congenital diaphragmatic hernia. Teratology, 1992, 46, 555-565.
99. VAN DOOREN M., BROOKS A., HOOGEBOOM J., WOUTERS C., TIBBOEL D.: Wolf-Hirschhorn syndrome (WHS) presenting as a life-threatening event due to congenital diaphragmatic hernia. Genet. Counsel., 2001, 12, 198-199.
100. VON VOSS V.H., FOERSTER W., ARNOLD W., KNOLL G., SOMVILLE T., MÜNTEFERING H., KEMPERDICK H.: Multiple Mißbildungen bei einem Frühgeborenen mit kompletter Trisomie 22. Der Kinderarzt, 1982, 13, 693-695.
101. WAKUI K., YAMAGISHI A., ITO T., IMAIZUMI S.: Characterization of an interstitial deletion of chromosome 4 [del(4)(q31.1q31.3 or q31.3q32.2)] in a mother and son by chromosome painting. Jpn. J. Hum. Genet., 1996, 41, 69.
102. WARBURTON P.E., DOLLED M., MAHMOOD R., ALONSO A., LI S., NARITOMI K., TOHMA T., NAGAI T., HASEGAWA T., OHASHI H., GOVAERTS L.C.P., EUSSEN B.H.J., van HEMEL J.O., LOZZIO C., SCHWARTZ S., DOWHANICK-MORRISSETTE J.J., SPINNER N.B., RIVERA H., CROLLA J.A., YU C., WARBURTON D.: Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. Am. J. Hum. Genet., 2000, 66, 1794-1806.
103. WOLSTENHOLME J., BROWN J., MASTERS K.G., WRIGHT C., ENGLISH C.J.: Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). J. Med. Genet., 1994, 31, 647-648.
104. YOUNG R.S., PALMER C.G., BENDER H.A., WEAVER D.D., HODES M.E.: A 4.5-year-old girl with deletion syndrome - de novo, 46,XX,del(4)(pter→q31:). Am. J. Med. Genet., 1982, 12, 103-107.
105. YOUSSOFIAN H., CHANCE P., TUCK-MULLER C.M., JABS E.W.: Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: Assignment of a human ferritin gene. Hum. Genet., 1988, 78, 267-270.
106. YU C.W., BOCK H.G.O.: Interstitial deletion of the long arm of chromosome 6: Report of a case and review of literature. Proc. Greenwood Genet. Center, 1997, 16, 283.
107. YUNIS E., GIRALDO A., ZUNIGA R., EGEL H., RAMIREZ E.: Partial trisomy 4q. Ann. Génét., 1977, 20, 243-248.
108. YUNIS E., SILVA R., GIRALDO A.: Trisomy 10p. Ann. Génét., 1976, 19, 57-60.
109. ZABEL B., BAUMANN W.: Trisomie partielle pour la partie distale du bras court du chromosome 15 par translocation X/15 maternelle. Ann. Génét., 1977, 20, 285-289.