Genotype-phenotype correlation in 13q13.3-q21.3 deletion

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Tosca, Lucie ^a,b,c   Brisset, Sophie ^a,b   Petit, François M ^a,b   Metay, Corinne ^d   Latour, Stéphanie ^a   Lautier, Benoît ^a   Lebas, Axel ^e   Druart, Luc ^f   Picone, Olivier ^a   Mas, Anne Elisabeth ^a   Prévot, Sophie ^a   Tardieu, Marc ^e   Goossens, Michel ^d   Tachdjian, Gérard ^a,b,c  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c Centre National de la Recherche Scientifique   (France)

^d HENRI MONDOR HOSPITAL   (France)

^e BICÊTRE HOSPITAL   (France)

^f Biomnis   (France)

Author keywords

Chromosome 13; Genotype phenotype correlation; Interstitial deletion; Oligonucleotide array CGH

Indexed keywords

ARTICLE; CASE REPORT; CELL DIVISION; CHILD; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CKAP2 GENE; COMPARATIVE GENOMIC HYBRIDIZATION; DCLK1 GENE; DNA MICROARRAY; EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; KARYOTYPE; LECT1 GENE; MACROCEPHALY; MENTAL DEFICIENCY; MICROSATELLITE MARKER; NUCHAL TRANSLUCENCY MEASUREMENT; PHYSICAL EXAMINATION; PRESCHOOL CHILD; RETROGNATHIA; SMAD9 GENE; SUGT1 GENE;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MICROSATELLITE REPEATS; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; YOUNG ADULT;

EID: 79961126220     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.004     Document Type: Article

References (21)

1. Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., et al. The DNA sequence and analysis of human chromosome 13. Nature 2004, 428:522-528.
2. Allderdice P.W., Davis J.G., Miller O.J., Klinger H.P., Warburton D., Miller D.A., et al. The 13q-deletion syndrome. Am. J. Hum. Genet. 1969, 21:499-512.
3. Lele K.P., Penrose L.S., Stallard H.B. Chromosome deletion in a case of retinoblastoma. Ann. Hum. Genet. 1963, 27:171-174.
4. Ballarati L., Rossi E., Bonati M.T., 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.
5. 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. Genet. A 2008, 146:337-342.
6. 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. Genet. 2009, 52:41-46.
7. Filges I., Röthlisberger B., Noppen C., Boesch N., Wenzel F., Necker J., et al. Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family. Am. J. Med. Genet. A 2009, 149A:237-241.
8. Kirchhoff M., Bisgaard A.M., Stoeva R., Dimitrov B., Gillessen-Kaesbach G., Fryns J.P., et al. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am. J. Med. Genet. A 2009, 149A:894-905.
9. Walsh L.E., Vance G.H., Weaver D.D. Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am. J. Med. Genet. 2001, 98:137-144.
10. Motegi T., Kaga M., Yanagawa Y., Kadowaki H., Watanabe K., Inoue A., et al. A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q. Hum. Genet. 1983, 64:160-162.
11. Turleau C., de Grouchy J., Chavin-Colin F., Junien C., Séger J., Schlienger P., et al. Cytogenetic forms of retinoblastoma: their incidence in a survey of 66 patients. Cancer Genet. Cytogenet. 1985, 16:321-334.
12. Fukushima Y., Kuroki Y., Ito T., Kondo I., Nishigaki I. Familial retinoblastoma (mother and son) with 13q14 deletion. Hum. Genet. 1987, 77:104-107.
13. Skrypnyk C., Bartsch O. Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14. Am. J. Med. Genet. A 2004, 124A:397-401.
14. Hiraki Y., Shukunami C. Chondromodulin-I as a novel cartilage-specific growth-modulating factor. Pediatr. Nephrol. 2000, 14:602-605.
15. Wu Q., Maniatis T. A striking organization of a large family of human neural cadherin-like cell adhesion genes. Cell 1999, 97:779-790.
16. Dijkmans T.F., van Hooijdonk L.W., Fitzsimons C.P., Vreugdenhil E. The doublecortin gene family and disorders of neuronal structure. Cent. Nerv. Syst. Agents Med. Chem. 2010, 10:32-46.
17. 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.
18. Albrecht P., Ansperger-Rescher B., Schüler A., Zeschnigk M., Gallie B., Lohmann D.R. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. Hum. Mutat. 2005, 26:437-445.
19. Dehainault C., Michaux D., Pagès-Berhouet S., Caux-Moncoutier V., Doz F., Desjardins L., et al. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur. J. Hum. Genet. 2007, 15:473-477.
20. Kogan J.M., Egelhoff J.C., Saal H.M. Interstitial deletion of 13q associated with polymicrogyria. Am. J. Med. Genet. A 2008, 146:910-916.
21. Matsugana E. Retinoblastoma: host resistance and 13q- chromosomal deletion. Hum. Genet. 1980, 56:53-58.