Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

European Journal of Medical Genetics

Volumn 52, Issue 1, 2009, Pages 49-52

  Lespinasse, James ^a   Gimelli, Stefania ^b   Béna, Frédérique ^b   Antonarakis, Stylianos E ^b,c   Ansermet, François ^b   Paoloni Giacobino, Ariane ^c  

^a GENERAL HOSPITAL   (France)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF GENEVA   (Switzerland)

Author keywords

Chromosome 6; Comparative genomic hybridization; Dysmorphisms; Mental retardation; Microdeletion

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 6Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORRELATION ANALYSIS; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENOTYPE; HUMAN; KARYOTYPE; LANGUAGE DISABILITY; MENTAL DEFICIENCY; PHENOTYPE; SCHOOL CHILD;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENOTYPE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MENTAL RETARDATION; PHENOTYPE; PSYCHOMOTOR DISORDERS;

EID: 58149116748     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.10.001     Document Type: Article

References (16)

1. Buhot M.C., Wolff M., Benhassine N., Costet P., Hen R., and Segu L. Spatial learning in the 5-HT1B receptor knockout mouse: selective facilitation/impairment depending on the cognitive demand. Learn. Mem. 10 (2003) 466-477
2. Dutrillaux B., and Vigas-Pequignot E. High resolution R- and G-banding on the same preparation. Hum. Genet. 57 (1981) 93-95
3. Friedman J.M., Baross A., Delaney A.D., Ally A., Arbour L., Asano J., Bailey D.K., Barber S., Birch P., Brown-John M., Cao M., Chan S., Charest D.L., Farnoud N., Fernandes N., Flibotte S., Go A., Gibson W.T., Holt R.A., Jones S.J.M., Kennedy G.C., Krzywinski M., Langlois S., Li H.I., McGillivray B.C., Nayar T., Pugh T.J., Rajcan-Separovic E., Schein J.E., Schnerch A., Siddiqui A., Van Allen M.I., Wilson G., Yong S.L., Zahir F., Eydou P.X., and Marra M.A. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am. J. Hum. Genet. 79 (2006) 500-513
4. Gershoni-Baruch R., Mandel H., Bar El H., Bar-Nizan N., Borochowitz Z., and Dar H. Interstitial deletion (6)q13q15. Am. J. Med. Genet. 62 (1996) 345-347
5. Hopkin R.J., Schorry E., Bofinger M., Milatovich A., Stern H.J., Jayne C., and Saal H.M. New insights into the phenotypes of 6q deletions. Am. J. Med. Genet. 70 (1997) 377-386
6. Klein O.D., Cotter P.D., Moore M.W., Zanko A., Gilats M., Epstein C.J., Conte F., and Rauen K.A. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin. Genet. 71 (2007) 260-266
7. Kumar R., Riordan D., Dawson A.J., and Chudley A.E. Proximal interstitial 6q deletion: a recognizable syndrome. Am. J. Med. Genet. 71 (1997) 353-356
8. Leonard H., and Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 8 (2002) 117-134
9. McNeal R.M., Skoglund R.R., and Francke U. Congenital anomalies including the VATER association in a patient with del(6)q deletion. J. Pediatr. 91 (1977) 957-960
10. Myers S.M., and Challman T.D. Proximal 6q interstitial deletion without severe mental retardation. Genet. Couns. 16 (2005) 269-276
11. Roeleveld N., Zielhuis G., and Gabreels F. The prevalence of mental retardation: a critical review of recent literature. Dev. Med. Child Neurol. 39 (1997) 125-132
12. Romie S.S., Hartsfield Jr. J.K., Sutcliffe M.J., Dumont D.P., and Kousseff B.G. Monosomy 6q1: syndrome delineation. Am. J. Med. Genet. 62 (1996) 105-108
13. Sari Y. Serotonin1B receptors: from protein to physiological function and behavior. Neurosci. Biobehav. Rev. 28 (2004) 565-582
14. Sibille E., Su J., Leman S., Le Guisquet A.M., Ibarguen-Vargas Y., Joeyen-Waldorf J., Glorioso C., Tseng G.C., Pezzone M., Hen R., and Belzung C. Lack of serotonin1B receptor expression leads to age-related motor dysfunction, early onset of brain molecular aging and reduced longevity. Mol. Psychiatry 12 (2007) 1042-1056
15. Young R.S., Fidone G.S., Reider-Garcia P.A., Hansen K.L., McCombs J.L., and Moore C.M. Deletions of the long arm of chromosome 6: two new cases and review of the literature. Am. J. Med. Genet. 20 (1985) 21-29
16. Zherebtsov M.M., Klein R.T., Aviv H., Toruner G.A., Hanna N.N., and Brooks S.S. Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature. Clin. Dysmorphol. 16 (2007) 135-140