Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 362-366

  Valetto, Angelo ^a   Orsini, Alessandro ^b   Bertini, Veronica ^a   Toschi, Benedetta ^a   Bonuccelli, Alice ^b   Simi, Francesca ^b   Sammartino, Irene ^b   Taddeucci, Grazia ^b   Simi, Paolo ^a   Saggese, Giuseppe ^b  

^a SANTA CHIARA HOSPITAL   (Italy)

^b UNIVERSITY HOSPITAL OF PISA   (Italy)

Author keywords

Array CGH; Chromosomal imbalance; Deletion 21q22; DYRK1; Epilepsy; FISH; KCNJ6

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 21Q INTERSTITIAL DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; EAR MALFORMATION; ELECTROENCEPHALOGRAPHY; FACE DYSMORPHIA; FEBRILE CONVULSION; FLUORESCENCE IN SITU HYBRIDIZATION; GENERALIZED EPILEPSY; HAND MALFORMATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; MALE; MEDICAL HISTORY; MICROCEPHALY; MICRORETROGNATHIA; NEUROIMAGING; NOSE ALA; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; RETROGNATHIA; SCHOOL CHILD; TONIC CLONIC SEIZURE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 21; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY, GENERALIZED; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MONOSOMY;

EID: 84862166959     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.03.011     Document Type: Article

References (14)

1. Theodoropoulos D.S., Cowan J.M., Cole E.R. Physical findings in 21q22 deletion suggest critical region for 21q-phenotype in q22. Am. J. Med. Genet. 1995, 59:161-163.
2. Lindstrand A., Malmgren H., Sahlen S., Schoumans J., Nordgren A., Ergander U., Holm E., Anderlid B.M., Blennow E. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin. Genet. 2010, 77:145-154.
3. Lyle R., Bena F., Gagos S., Gehrig C., Lopez G., Schinzel A., Lespinasse J., Bottani A., Dahoun S., Taine L., Doco-fenzy M., Cornillet-Lefebvre P., Pelet A., Lyonnet S., Toutain A., Colleaux L., Horst J., Kennerknecht I., Wakamatsu N., Descartes M., Franklin J.C., Florentin-Arar L., Kitsiou S., Ait Yahya Graison E., Constantine M., Sinet P.M., Delabar J.M., Antonorakis S.E. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur. J. Hum. Genet. 2009, 17:454-466.
4. Ehling D., Kennerknecht I., Junge A., Prager B., Exeler R., Behre B., Horst J., Schimitt-john T., Bartsch O., Wirth J. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am. J. Med. Genet. 2004, 131:265-272.
5. Oegema R., de Klein A., Vervek A.J., Schot R., Dumee B., Douben H., Eussen B., Dubbel L., Poddighe P.J., van der Laar I., Dobyns W.B., van der Speck P.J., Lequin M.H., de Coo I.F.M., de Wit M.C.Y., Wessels M.W., Mancini G.M.S. Distinctive phenotypic Abnormalities associated with submicroscopic 21q22 deletion including DYRK1A. Mol. Syndromol. 2010, 1:113-120.
6. Fujita H., Torii C., Kosaki R., Yamaguchi S., Kudoh J., Hayashi K., Takahashi T., Kosaki K. Microdeletion of the Down Syndrome Critical Region at 21q22 152A 2010, 950-953.
7. Yamamoto T., Shimojima K., Nishizawa T., Matsuo M., Ito M., Imai K. Clinical manifestations of the deletion of Down Syndrome critical region including DYRK1A and KCNJ6. Am. J. Med. Genet. 2010, 155A:113-119.
8. Moller R.S., Kubart S., Hoeltzenbein M., Heye B., Vogel I., Hansen C.P., Menzel C., Ullmann R., Tommerup N., Ropers H.H., Tumer Z., Kalscheuer V. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with Microcephaly. Am. J. Hum. Genet. 2008, 82:1165-1170.
9. Arque' G., Fotaki V., Fernandez D., Martinez de Lagran M., Arbones M.L., Dierssen M. Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (dyrk1A). PLoS One 2008, 3:e2575.
10. Lerche H., Jurkat-Rott K., Lehmann-Horn F. Ion channels and epilepsy. Am. J. Med. Genet. 2001, 106:146-159.
11. B. Chioza, A. Osei-Lah, H. Wilkie, L. Nashef, D. McCormick, P. Asherson, A.J. Makoff, Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes, Epilepsy. Res. 52 82002) 107-116.
12. Hallmann K., Durner M., Sander T., Steinlein O.K. Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy. Am. J. Med. Genet. 2000, 96:8-11.
13. Hess E.J. Identification of the weaver mouse mutation: the end of the beginning. Neuron 1996, 16:1073-1076.
14. Lignon J.M., Bichler Z., Hivert B., Gannier F.E., Cosnay P., del Rio J.A., Migliore-Samour D., Malecot C.O. Altered heart rate control in transgenic mice carrying the KCNJ6 gene of the human chromosome 21. Physiol. Genomics 2008, 33:230-239.