A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

European Journal of Medical Genetics

Volumn 52, Issue 1, 2009, Pages 59-61

  Chen, Chih Ping ^a,b,c   Tzen, Chin Yuan ^a   Chern, Schu Rern ^a   Tsai, Fuu Jen ^c,d   Hsu, Chin Yuan ^a   Lee, Chen Chi ^a   Lee, Meng Shan ^a   Pan, Chen Wen ^a   Wang, Wayseen ^a,e  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e TATUNG UNIVERSITY   (Taiwan)

Author keywords

Array CGH; Dandy Walker malformation; Distal 6p deletion; FOXC1; Multicystic dysplasia of the kidneys; OFC1; Orofacial clefting; Prenatal diagnosis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLEFT FACE; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DANDY WALKER SYNDROME; FACE MALFORMATION; FETUS; FOREHEAD; GENE DELETION; GESTATION PERIOD; HUMAN; HYPERTELORISM; LOW SET EAR; MULTICYSTIC DYSPLASTIC KIDNEY; NOSE MALFORMATION; OLIGOHYDRAMNIOS;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CLEFT LIP; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; DANDY-WALKER SYNDROME; FACE; FEMALE; FETUS; GESTATIONAL AGE; HUMANS; MULTICYSTIC DYSPLASTIC KIDNEY; PREGNANCY; PREGNANCY TRIMESTER, SECOND; SKULL;

EID: 58149136111     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.11.003     Document Type: Article

References (11)

1. Carinci F., Scapoli L., Palmieri A., Zollino I., and Pezzetti F. Human genetic factors in nonsyndromic cleft lip and palate: an update. Int. J. Pediatr. Otorhinolaryngol. 71 (2007) 1509-1519
2. Devriendt K., and Fryns J.-P. Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux. Am. J. Med. Genet. 59 (1995) 396-398
3. Descipio C. The 6p subtelomere deletion syndrome. Am. J. Med. Genet. C Semin. Med. Genet. 145C (2007) 377-382
4. Fryns J.-P., Kleczkowska A., Moerman P., and Vandenberghe K. Hereditary hydronephrosis and the short arm of chromosome 6. Hum. Genet. 91 (1993) 514-515
5. Izquierdo L., Porteous M., Paramo P.G., and Connor J.M. Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. Hum. Genet. 89 (1992) 557-560
6. Kume T., Deng K., and Hogan B.L. Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. Development 127 (2000) 1387-1395
7. Mirza G., Williams R.R., Mohammed S., Clark R., Newbury-Ecob R., Baldinger S., Flinter F., and Ragoussis J. Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur. J. Hum. Genet. 12 (2004) 718-728
8. Nakano T., Niimura F., Hohenfellner K., Miyakita E., and Ichikawa I. Screening for mutations in BMP4 and FOXC1 genes in congenital anomalies of the kidney and urinary tract in humans. Tokai J. Exp. Clin. Med. 28 (2003) 121-126
9. Topping A., Harris P., and Moss A.L. The 6p deletion syndrome: a new orofacial clefting syndrome and its implications for antenatal screening. Br. J. Plast. Surg. 55 (2002) 68-72
10. Suwanrath-Kengpol C., Limprasert P., and Mitarnun W. Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis. Prenat. Diagn. 24 (2004) 887-889
11. Zarbalis K., Siegenthaler J.A., Choe Y., May S.R., Peterson A.S., and Pleasure S.J. Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 14002-14007