Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression

Journal of Human Genetics

Volumn 47, Issue 10, 2002, Pages 511-516

  Wakui, K ^a,b   Toyoda, A ^b,c   Kubota, T ^d   Hidaka, E ^b   Ishikawa, M ^b   Katsuyama, T ^b   Sakaki, Y ^c   Hattori, M ^c   Fukushima, Y ^a,e  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY HOSPITAL   (Japan)

^c RIKEN YOKOHAMA INSTITUTE   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^e JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

21q21; Chromosome 21; Fluorescence in situ hybridization; Mental retardation; Partial monosomy chromosome 21; Sensorineural hearing loss; USH1E; Usher syndrome 1E

Indexed keywords

DNA MARKER;

ADULT; ARTICLE; CENTROMERE; CHROMOSOME 21Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENETIC VARIABILITY; HAPLOTYPE; HEREDITY; HUMAN; MALE; MENTAL DEFICIENCY; MOLECULAR CLONING; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PROMOTER REGION; USHER SYNDROME;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; CYTOGENETIC ANALYSIS; FEMALE; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; PEDIGREE; RETINAL DEGENERATION; SEQUENCE DELETION;

EID: 0036032115     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200076     Document Type: Article

References (12)

1. Ahlbom BE, Sidenvall R, Anneren G (1996) Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation. Am J Med Genet 64:501-505
2. Chaib H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C (1997) A newly identified locus for Usher syndrome type I, USHIE, maps to chromosome 21q21. Hum Mol Genet 6:27-31
3. Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML (2000) The DNA sequence of human chromosome 21. Nature 405:311-319
4. Huret JL, Leonard C, Chery M, Philippe C, Schafei-Benaissa E, Lefaure G, Labrune B, Gilgenkrantz S (1995) Monosomy 21q: two cases of del(21q) and review of the literature. Clin Genet 48:140-147
5. Keats BJ, Corey DP (1999) The usher syndromes. Am J Med Genet 89:158-166
6. Korenberg JR, Kalousek DK, Anneren G, Pulst SM, Hall JG, Epstein CJ, Cox DR (1991) Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion. Hum Genet 87:112-118
7. Osoegawa K, Mammoser AG, Wu C, Frengen E, Zeng C, Catanese JJ, de Jong PJ (2001) A bacterial artificial chromosome library for sequencing the complete human genome. Genome Res 11:483-496
8. Potier M, Dutriaux A, Orti R, Groet J, Gibelin N, Karadima G, Lutfalla G, Lynn A, Van Broeckhoven C, Chakravarti A, Petersen M, Nizetic D, Delabar J, Rossier J (1998) Two sequence-ready contigs spanning the two copies of a 200-kb duplication on human 21q: partial sequence and polymorphisms. Genomics 51:417-426
9. Reynolds JF, Wyandt HE, Kelly TE (1985) De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis. Am J Med Genet 20:173-180
10. Roland B, Cox DM, Hoar DI, Fowlow SB, Robertson AS (1990) A familial interstitial deletion of the long arm of chromosome 21. Clin Genet 37:423-428
11. Wakui K, Tanemura M, Suzumori K, Hidaka E, Ishikawa M, Kubota T, Fukushima Y (1999) Clinical applications of two-color telomeric FISH for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child of multiple congenital anomalies. J Hum Genet 44:85-90
12. Wulfsberg EA, Carrel RE, Klisak IJ, O'Brien TJ, Sykes JA, Sparkes RS (1983) Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22. Hum Genet 64:271-272