Deletion 2q37.3→qter and duplication 15q24.3→qter characterized by array CGH in a girl with epilepsy and dysmorphic features

Genetic Counseling

Volumn 21, Issue 2, 2010, Pages 263-267

  Chen, Chih Ping ^a,b,c,d   Lin, S P ^a   Chern, S R ^a   Tsai, F J ^c,e   Wu, P C ^a   Lee, C C ^a   Chen, L F ^a   Lee, M S ^a   Wang, W ^a,f  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^f TATUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CYTOGENETICS; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FEMALE; GAIT DISORDER; HUMAN; KARYOTYPE; LEARNING DISORDER; LETTER; MENTAL DEFICIENCY; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SPEECH DISORDER; TALL STATURE;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FACE; FEMALE; GENE DUPLICATION; HUMANS; INFANT; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TAIWAN;

EID: 77954733555     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (10)

1. ABUZZAHAB M.J., SCHNEIDER A., GODDARD A., GRIGORESCU F., LAUTIER C., KELLER E., KIESS W., KLAMMT J., KRATZSCH J., OSGOOD D., PFÄFFLE R., RAILE K., SEIDEL B., SMITH R.J., CHERNAUSEK S.D., INTRAUTERINE GROWTH RETARDATION (IUGR) STUDY GROUP.: IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N. Engl. J. Med., 2003, 349, 2211-2222.
2. BONAFÈ M., BARBIERI M., MARCHEGIANI F., OLIVIERI F., RAGNO E., GIAMPIERI C., MUGIANESI E., CENTURELLI M., FRANCESCHI C., PAOLISSO G.: Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control. J. Clin. Endocrinol. Metab., 2003, 88, 3299-3304.
3. BONATI M.T., FINELLI P., GIARDINO D., GOTTARDI G., ROBERTS W., LARIZZA L.: Trisomy 15q25.2-qter in an autistic child: genotype-phenotype correlations. Am. J. Med. Genet., 2005, 133A, 184-188.
4. CASAS K.A., MONONEN T.K., MIKAIL C.N., HASSED S.J., LI S., MULVIHILL J.J., LIN H.J., FALK R.E.: Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am. J. Med. Genet., 2004, 130A, 331-339.
5. FAIVRE L., GOSSET P., CORMIER-DAIRE V., ODENT S., AMIEL J., GIURGEA I., NASSOGNE M.C., PASQUIER L., MUNNICH A., ROMANA S., PRIEUR M., VEKEMANS M., DE BLOIS M.C., TURLEAU C.: Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: Report of two families and review of the literature. Eur. J. Hum. Genet., 2002, 10, 699-706.
6. KANT S.G., KRIEK M., WALENKAMP M.J.E., HANSSON K.B., VAN REIJN A., CLAYTON-SMITH J., WIT J.M., BREUNING M.H.: Tall stature and duplication of the insulin-like growth factor I receptor gene. Eur. J. Med. Genet., 2007, 50, 1-10.
7. OKUBO Y., SIDDLE K., FIRTH H., O'RAHILLY S., WILSON L.C., WILLATT L., FUKUSHIMA T., TAKAHASHI S., PETRY C.J., SAUKKONEN T., STANHOPE R., DUNGER D.B.: Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene. J. Clin. Endocrinol. Metab., 2003, 88, 5981-5988.
8. REDDY K.S., FLANNERY D., FARRER R.J.: Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum. Am. J. Med. Genet., 1999, 84, 460-468.
9. TATTON-BROWN K., PILZ D.T., O:RSTAVIK K.H., PATTON M., BARBER J.C. , COLLINSON M.N., MALONEY V.K., HUANG S., CROLLA J.A., MARKS K., ORMEROD E., THOMPSON P., NAWAZ Z., LESE-MARTIN C., TOMKINS S., WATTS P., RAHMAN N., MCENTAGART M.: 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am. J. Med. Genet., 2009, 149A, 147-154.
10. VAN ALLEN M.I., SIEGEL-BARTELT J., FEIGENBAUM A., TESHIMA I.E.: Craniosynostosis associated with partial duplication of 15q and deletion of 2q. Am. J. Med. Genet., 1992, 43, 688-692.