Opposite deletions/duplications of the X chromosome: Two novel reciprocal rearrangements

European Journal of Human Genetics

Volumn 8, Issue 1, 2000, Pages 63-70

  Giglio, Sabrina ^a   Pirola, Barbara ^a,b   Arrigo, Giulia ^b   Dagrada, Paolo ^c   Bardoni, Barbara ^a   Bernardi, Franca ^d   Russo, Giovanni ^b   Argentiero, Luisa ^c   Forabosco, Antonino ^e   Carrozzo, Romeo ^b   Zuffardi, Orsetta ^a,b,f  

^a UNIVERSITY OF PAVIA   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c Azienda Ospedaliera della Provincia di Lodi   (Italy)

^d Ospedale Borgo Roma   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^f Biologia Generale e Genetica Medica   (Italy)

Author keywords

Deletion duplication; Homologous recombination; Repeated sequences; X chromosome

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHROMOSOME XP; CHROMOSOME XQ; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; HYPOGONADISM; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; X CHROMOSOME; YEAST ARTIFICIAL CHROMOSOME;

ADOLESCENT; ADULT; AGED; AMENORRHEA; BLOTTING, SOUTHERN; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, YEAST; FEMALE; GENE DUPLICATION; GROWTH DISORDERS; HUMANS; HYPOGONADISM; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEIOSIS; MICROSATELLITE REPEATS; PEDIGREE; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0033995264     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200394     Document Type: Article

References (33)

1. Lehrman MA, Goldstein JL, Russell DW, Brown MS: Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell 1987; 48: 827-835.
2. Weatherall D: The molecular basis for phenotypic variability of the common thalassaemias. Mol Med Today 1995; 1: 15-20.
3. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS: Molecular genetics of inherited variation in human color vision. Science 1986; 232: 203-210.
4. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
5. Rossiter JP, Young M, Kimberland ML et al: Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 1035-1039.
6. Bondeson ML, Dahl N, Malmgren H et al: Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Hum Mol Genet 1995; 4: 615-621.
7. Timms KM, Bondeson ML, Ansari-Lari MA: Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 1997; 6: 479-486.
8. Small K, Iber J, Warren ST: Emerin deletion reveals a common X-chromosome inversion mediated by inverted repears. Nat Genet 1997; 16: 96-99.
9. Pentao L, Wise C, Chinault C, Patel P, Lupski J: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeats sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992; 2: 292-300.
10. Chance P, Abbas N, Lensch M et al: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994; 3: 223-228.
11. Lupski JR: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998; 14: 417-422.
12. Chen KS, Manian P, Koeuth T et al: Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 1997; 17: 154-163.
13. Floridia G, Piantanida M, Minelli A et al: The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 1996; 58: 785-796.
14. Dutrillaux B, Viegas-Pequignot E: High resolution R- and G-banding on the same preparation. Hum Genet 1981; 57: 93-95.
15. Carrozzo R, Arrigo G, Rossi E et al: Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter>qter) and random X inactivation. Am J Med Genet 1997; 72: 329-334.
16. Clemens PR, Fenwick RG, Chamberlain JS et al: Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy familie, using dinucleotides repeat polymorphisms. Am J Hum Genet 1991; 49: 951-960.
17. Bardoni B, Floridia G, Guioli S et al: Functional disomy of Xp22-pter in three males carrying a portio of Xp translocated to Yq. Hum Genet 1993; 91: 333-338.
18. Sala C, Arrigo G, Torri G et al: Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xp21. Genomics 1997; 40: 123-131.
19. Lundin LG: Evolution of the vertebrate genome as reflected in paralogous chromosomal regions in man and and the house mouse. Genomics 1993; 16: 1-19.
20. Keitges EA, Palmer CG, Weaver DD: Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum Genet 1982; 62: 210-213.
21. Pfeiffer RA, Kossakiewicz M, Baisch C: Pericentric inversions of the X chromosome. A new observation and review of the published cases. J Genet Hum 1986; 34: 331-337.
22. Jacobs P, Dalton P, James, Mosse K et al: Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997; 61: 471-483.
23. Ogata T, Matsuo N: Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995; 95: 607-629.
24. Callen DF, Mulley JC, Baker EG, Sutherland GR: Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences. Hum Genet 1987; 77: 236-240.
25. Therman E, Susman B: The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 1990; 85: 455-461.
26. Bernstein R, Jenkins T, Dawson B et al: Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J Med Genet 1980; 17: 291-300.
27. Reichenbach H, Holland H, Thamm B, Theile T: Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication. Kinderarztl Prax 1993; 61: 291-295.
28. Bardoni B, Zanaria E, Guioli S et al: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994; 7: 497-501.
29. Baumstark A, Barbi G, Djalali M et al: Xp-duplications with and without sex reversal. Hum Genet 1996; 97: 79-86.
30. Telvi L, Ion A, Carel JC et al: A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. J Med Genet 1996; 33: 767-771.
31. Letterie GS: Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome. Am J Med Genet 1995; 59: 414-416.
32. Rao E, Weiss B, Fukami M et al: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54-63.
33. Geerkens C, Just W, Vogel W: Deletions of Xq and growth deficit: a review. Am J Med Genet 1994; 50: 105-113.