13q33.2 deletion: A rare cause of ambiguous genitalia in a male newborn with growth restriction

Acta Paediatrica, International Journal of Paediatrics

Volumn 99, Issue 5, 2010, Pages 784-786

  Andresen, J H ^a   Aftimos, S ^a   Doherty, E ^b   Love, D R ^b   Battin, M ^a  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

Ambiguous; Genetic; Genitalia; Neonatal

Indexed keywords

EPHRIN B2;

AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME DELETION; DISEASE ASSOCIATION; DNA ISOLATION; FACIES; GENE MAPPING; GENE TRANSLOCATION; GENITAL MALFORMATION; HUMAN; HYPOSPADIAS; INFANT; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; MALE; MALE GENITAL TRACT MALFORMATION; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; RARE DISEASE; RECIPROCAL CHROMOSOME TRANSLOCATION;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; CONGENITAL ABNORMALITIES; FETAL GROWTH RETARDATION; GENITALIA, MALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; MICROARRAY ANALYSIS; TRANSLOCATION, GENETIC;

EID: 77950204328     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2010.01683.x     Document Type: Article

References (6)

1. Brown S, Russo J, Chitayat D, Warburton D. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Gene 1995 57 : 859 866.
2. Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, et al. Chromosome deletions in 13q33-34: report of four patients and review of the literature. Am J Med Gene Part A 2008 146A : 337 342.
3. Garcia N, Allgood J, Santos L, Lonergan D, Batanian J, Dravis C, et al. Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13. J Pediatr Urol 2006 2 : 233 242.
4. Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, et al. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Gene 2009 52 : 41 6.
5. Dravis C, Yokoyama N, Chumley MJ, Cowan CA, Silvany RE, Shay J, et al. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development. Dev Biol 2004 271 : 272 290.
6. Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, et al. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 2007 44 : e60.