The importance of excluding 13q deletion mosaicism in the diagnosis of retinoblastoma associated with dysmorphic features

Genetic Counseling

Volumn 16, Issue 1, 2005, Pages 91-93

  Van Esch, H ^a   Aerssens, P ^b   Fryns, Jean Pierre ^a,c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b VIRGA JESSE HOSPITAL   (Belgium)

^c CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILDHOOD CANCER; CHROMOSOME 13Q; CHROMOSOME DELETION; CHROMOSOME DELETION 13; CYTOGENETICS; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; INTRAOCULAR TUMOR; KARYOTYPE; MENTAL RETARDATION MALFORMATION SYNDROME; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; RETINOBLASTOMA; SKIN FIBROBLAST; THUMB MALFORMATION; TUMOR DIAGNOSIS;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; DIAGNOSIS, DIFFERENTIAL; FACE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; RECURRENCE; RETINAL NEOPLASMS; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 16444366867     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. BAUD O., CORMIER-DAIRE V., LYONNET S., DESJARDINS L., TURLEAU C., DOZ F.: Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin. Genet., 1999, 55, 478-482.
2. BROWN S., GERSEN S., ANYANE-YEBOA K., WARBURTON D.: Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am. J. Med Genet., 1993, 45, 52-59.
3. 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. Genet., 1995, 57, 859-866.
4. LUNGAROTTI M.S., MARIOTTI G., PROVENZANO S., ANGELETTI G.: [Interstitial deletion of the chromosome 13:46,XX, of 13(q12-q21): description of a case]. Pathologica, 1979, 71, 360-361.
5. NIEBUHK E.: Partial trisomies and deletions of chromosome 13. In: New Chromosomal Syndromes. J.J. Yunis (ed.). New York. Academic Press. 1977, 273-295.
6. TRANEBJAERG L., NIELSEN K.B., TOMMERUP N., WARBURG M., MIKKELSEN M.: Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am. J. Med. Genet., 1988, 29, 739-753.