Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia

Fetal Diagnosis and Therapy

Volumn 31, Issue 2, 2012, Pages 129-133

  Hendrix, Nancy W ^a   Clemens, Michele ^a   Canavan, Timothy P ^a   Surti, Urvashi ^a   Rajkovic, Aleksandar ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

17q12 microdeletion syndrome; Congenital diaphragmatic hernia; Glomerulocystic kidney disease; HNF 1B; LHX1

Indexed keywords

ALPHA FETOPROTEIN;

17Q12 MICRODELETION SYNDROME; AMNIOCENTESIS; APGAR SCORE; ARTICLE; CELL CULTURE; CHROMOSOME 13; CHROMOSOME 17Q; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; DOWN SYNDROME; ECHOCARDIOGRAPHY; FAMILY HISTORY; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; ISOCHROMOSOME; KARYOTYPE; KARYOTYPE 46,XX; KIDNEY HYPERTROPHY; NEWBORN; PALLISTER KILLIAN SYNDROME; PARITY; PREMATURE LABOR; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; PROGNOSIS; TRISOMY 18; ULTRASOUND; X CHROMOSOME; Y CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DIABETES MELLITUS, TYPE 2; FEMALE; HERNIA, DIAPHRAGMATIC; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KIDNEY; LUNG; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME;

EID: 84858998392     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000332968     Document Type: Article

References (26)

1. Mowery-Rushton PA, Stadler MP, Kochmar SJ, McPherson E, Surti U, Hogge WA: The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome Prenat Diagn 1997; 17: 255-265. (Pubitemid 27129192)
2. Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, et al: Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 2010; 18: 1196-1201.
3. Traylor RN, Fan Z, Hudson B, Rosenfeld JA, Shaffer LG, Torchia BS, Ballif BC: Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet 2009; 2: 17.
4. Harrison MR, Adzick NS, Estes JM, Howell LJ: A prospective study of the outcome for fetuses with diaphragmatic hernia. JAMA 1994; 271: 382-384. (Pubitemid 24037913)
5. Langham MR, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS: Congenital diaphragmatic hernia: epidemiology and outcome. Clin Perinat 1996; 23: 671-688. (Pubitemid 27010316)
6. Nobuhara KK, Lund DP, Mitchells J, Kharasch V, Wilson JM: Long-term outlook for survivors of congenital diaphragmatic hernia. Clin Perinatol 1996; 23: 873-887. (Pubitemid 27010328)
7. Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA: Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007; 80: 825-845. (Pubitemid 46668452)
8. Hedrick HL, Adzick NS: Congenital diaphragmatic hernia: prenatal diagnosis and management; in Wilkins-Haug L, Barss VA (eds): Up to Date, May 2010, www.uptodate. com (accessed 15.1.2011).
9. Tibboel D, Gaag AV: Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol 1996; 23: 689-699. (Pubitemid 27010317)
10. 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: 215-255.
11. Lurie IW: Where to look for the genes related to diaphragmatic hernia? Genet Couns 2003; 14: 75-93.
12. Graham G, Devine PC: Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol 2005; 29: 69-76. (Pubitemid 40828373)
13. Pober BR: Genetic aspects of human congenital diaphragmatic hernia. Clin Genet 2008; 74: 1-15.
14. Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, et al: Large genomic rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005; 54: 3126-3132. (Pubitemid 43334365)
15. Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, et al: Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 2007; 18: 923-933. (Pubitemid 46434509)
16. Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanné-Chantelot C, Chauveau D: Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1β (hepatocyte nuclear factor-1β) heterozygous wholegene deletion. Am J Kidney Dis 2007; 50: 1023-1027. (Pubitemid 350130275)
17. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, et al: Renal phenotypes related to hepatocyte nuclear factor-1β(TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 2006; 17: 497-503.
18. Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, et al: Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 2010; 18: 278-284.
19. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, et al: Mutations in the hepatocyte nuclear factor-1β gene in maturity- onset diabetes of the young (MODY3) Nature 1996; 384: 455-458. (Pubitemid 26414660)
20. Lazzaro D, De Simone V, De Magistris L, Lehtonen E, Cortese R: LFB1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development 1992; 114: 469-479.
21. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, et al: Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β. Kidney Int 2000; 57: 898-907. (Pubitemid 30434780)
22. Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, et al: Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 2001; 68: 219-224. (Pubitemid 32048377)
23. Bernstein J: Glomerulocystic kidney disease - nosological considerations. Pediatr Nephrol 1993; 7: 464-470.
24. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, et al: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007; 81: 1057-1069. (Pubitemid 47580257)
25. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD: Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011; 37: 6-14.
26. ACOG Committee Opinion No. 446: Array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 2009; 114: 1161-1163.