De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 784-788

  Ma, Gwo Chin ^a,b   Ke, Yu Yuan ^a   Lee, Meng Luen ^a   Tsao, Long Yen ^a   Lee, Dong Jay ^a   Yang, Chin Wen ^a   Kuo, Shou Jen ^a   Chiu, Han Yao ^a,c   Chen, Ming ^a,d  

^a CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^b CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^c CHANG JUNG CHRISTIAN UNIVERSITY   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ACTA1 GENE; ANEUPLOIDY; CASE REPORT; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 4Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL MALFORMATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; KARYOTYPING; LETTER; MUSCLE HYPOTONIA; PRIORITY JOURNAL; TNNT2 GENE; TRISOMY;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MUSCLE HYPOTONIA; SPECTRAL KARYOTYPING;

EID: 77649214067     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33157     Document Type: Letter

References (11)

1. Chia NI, Bousfield LR, Poon CC, Trudinger BJ. 1988. Trisomy (1q) (q42-qter): Confirmation of a syndrome. Clin Genet 34:224-229.
2. Crawford K, Flick R, Close L, Shelly D, Paul R, Bove K, Kumar K, Lessard J. 2002. Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol 22:5887-5896.
3. Gardner RJM, Sutherland GR. 2004. Chromosome abnormalities and genetic counseling. 3rd edition. New York: Oxford University Press.
4. Ji Y, Eichler EE, Schwartz S, Nicholls RD. 2000. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10:597-610.
5. Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S. 2003. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol 60:1421-1425.
6. Lo IFM, Cheung LYK, Ng AYY, Lam STS. 1998. Interstitial Dup(1p) with findings of Kabuki make-up syndrome. Am J Hum Genet 78:55-57.
7. Maron BJ. 2002. Hypertrophic cardiomyopathy. A systematic review. JAMA 287:1308-1320.
8. Marston S, Bertini E, Porfirio A, Graziano C, Petrini S, D'Amico A, Santorelli FM, Pacileo G, Sewry C. 2007. Fatal hypertrophic cardiomyopathy and nemaline myoipathy associated with ACTA1 K336E mutation. J Mol Cell Cardiol 42:S72-S79.
9. Utine GE, Aktas D, Alanay Y, Gücer S, Tuncbilek E, Mrasek K, Liehr T. 2007. Distal partial trisomy 1q: Report of two cases and a review of the literature. Prenat Diagn 27:865-871.
10. van Haelst MM, Eussen HJFMM, Visscher F, de Ruijter JLM, Drop SLS, Lindhout D, Wouters CH, Govaerts LCP. 2002. Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: Further delineation of the pure 1q trisomy syndrome. J Med Genet 39:582-585.
11. Villa V, Sala E, Colombo D, Dell'Orto M, Grioni D, Dalprà L. 2000. Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation. J Med Genet 37:612-615.