A unique presentation of 22q13 deletion syndrome: Multicystic kidney, orofacial clefting, and Wilms' tumor

Clinical Dysmorphology

Volumn 20, Issue 1, 2011, Pages 53-54

  Kirkpatrick, Brianne E ^a   El Khechen, Dima ^b  

^a St Vincent Hospital   (United States)

^b Peyton Manning Children's Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT;

22Q13 DELETION SYNDROME; AMNIOCENTESIS; ARTICLE; CANCER CHEMOTHERAPY; CASE REPORT; CHILD; CHROMOSOME DELETION; CLEFT FACE; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; HYDRAMNIOS; KARYOTYPE; MICROARRAY ANALYSIS; MULTICYSTIC DYSPLASTIC KIDNEY; NEPHROBLASTOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; ULTRASOUND;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT LIP; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; MULTICYSTIC DYSPLASTIC KIDNEY; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL; WILMS TUMOR;

EID: 78650763937     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833effb1     Document Type: Article

References (5)

1. Bisgaard A-M, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E (2009). Chromosome deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy. Clin Genet 75:175-179.
2. Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ (1999). Perlman syndrome: four additional cases and review. Am J Med Genet 86:439-446.
3. Jadresic L, Leake J, Gordon I, Dillon MJ, Grant DB, Pritchard J, et al. (1990). Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). J Pediatr 117: 717-725.
4. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 606232: 11/5/2009. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
5. Phelan MC (2008). Deletion 22q13.3 syndrome. Orphanet J Rare Dis 3:14.