Inverted duplications are recurrent rearrangements always associated with a distal deletion: Description of a new case involving 2q

European Journal of Human Genetics

Volumn 8, Issue 8, 2000, Pages 597-603

  Bonaglia, Maria Clara ^a   Giorda, Roberto ^a   Poggi, Gerardina ^a   Raggi, Maria Elisabetta ^a   Rossi, Elena ^c   Baroncini, Anna ^b   Giglio, Sabrina ^c   Borgatti, Renato ^a   Zuffardi, Orsetta ^c,d  

^a SCIENTIFIC INSTITUTE   (Italy)

^b Servizio Genetica Medica Azienda USL   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Albright like syndrome; Chromosome 2q; Deletion; Inverted duplications; Inverted duplicons

Indexed keywords

MICROSATELLITE DNA; REPETITIVE DNA;

ALBRIGHT SYNDROME; ALLELE; ARTICLE; CASE REPORT; CENTROMERE; CHILD; CHROMATID; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME PAIRING; CHROMOSOME REARRANGEMENT; CHROMOSOME SIZE; CROSSING OVER; CYTOGENETICS; FEMALE; GENETIC RECOMBINATION; HUMAN; MEIOSIS; PHENOTYPE; PRIORITY JOURNAL;

CHILD; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; DNA; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GENE DUPLICATION; GENE REARRANGEMENT; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MEIOSIS; MICROSATELLITE REPEATS; PHENOTYPE; RECOMBINATION, GENETIC;

EID: 0033872079     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200509     Document Type: Article

References (27)

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2. Duplication-deficiency of the short arm of chromosome 8 following artificial insemination
3. Inverted tandem duplication generates a duplication deficiency of chromosome 8p
4. The same molecular mechanism at the maternal meiosis I produces mono and dicentric 8p duplications
5. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype
6. Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?
7. Characterisation of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome
8. Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin
9. A paternally derived inverted duplication of 7q with evidence of a telomeric deletion
10. Molecular and cytogenetic characterisation of 9p- abnormalities
11. Schizophrenia susceptibility gene locus at Xp22.3
12. High resolution R- and G-banding on the same preparation
13. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter→q24::q21.32→qter) and random X inactivation
14. Clinical phenotype associated with terminal 2q37 deletion
15. Telomerase: Dr Jekyll or Mr Hyde?
16. Syndromal: Obesity due to paternal duplication 6(q24.3-q27)
17. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia
18. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
19. Molecular and phenotypic variation in patients with severe Hunter syndrome
20. De novo inverted tandem duplication of the long arm of chromosome 2(q34 leads to q37)
21. De novo inversion-duplication of 2q35-2qter without growth retardation
22. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome
23. Microdeletions of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum
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