Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH

Prenatal Diagnosis

Volumn 30, Issue 3, 2010, Pages 280-283

  Malvestiti, Francesca ^a   De Toffol, Simona ^a   Chinetti, Sara ^a   Grimi, Beatrice ^a   Favero, Giancarlo ^b   Borsatti, Alessandro ^c   Maggi, Federico ^a   Simoni, Giuseppe ^a   Grati, Francesca Romana ^a  

^a TOMA Advanced Biomedical Assays SpA   (Italy)

^b Merano Hospital   (Italy)

^c PerkinElmer   (Finland)

Author keywords

Array CGH; Chromosome 4q; Complex chromosome rearrangement; FISH; Interstitial deletion; Prenatal diagnosis

Indexed keywords

ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 1; CHROMOSOME 4Q; CHROMOSOME 5; CHROMOSOME DELETION 4; CHROMOSOME INSERTION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC LYMPHANGIOMA; FETUS; FETUS MALFORMATION; HUMAN; KARYOTYPE 46,XY; METAPHASE CHROMOSOME; OMPHALOCELE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; STRUCTURAL CHROMOSOME ABERRATION;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADULT; CHORIONIC VILLI SAMPLING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PRENATAL DIAGNOSIS; SPECTRAL KARYOTYPING; TRANSLOCATION, GENETIC;

EID: 77349101621     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2439     Document Type: Article

References (10)

1. Badano JL, Ansley SJ, Leitch CC, et al. 2003. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72: 650-658.
2. Chew CK, Foster P, Hurst JA, Salmon JF. 1995. Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion. Am J Ophthalmol 119(6): 807-809.
3. Copelli S, del Rey G, Heinrich J, Coco R. 1995. Brief clinical report: interstitial deletion of the long arm of chromosome 4, del(4)(q28 → q31.3). Am J Med Genet 55(1): 77-79.
4. Del Valle Torrado M, Labarta JD, Migliorini AM. 1982. Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype. J Med Genet 19(6): 477.
5. Eggermann K, Bergmann C, Heil I, et al. 2005. Rare proximal interstitial deletion of chromosome 4q, del(4) (q13.2q21.22): new case and comparison with the literature. Am J Med Genet 134A: 226-228.
6. Keeling SL, Lee-Jones L, Thompson P. 2001. Interstitial deletion 4q32-34with ulnar deficiency: 4q33 may be the critical region in the 4q terminal deletion syndrome. Am J Hum Genet 99: 94-98.
7. Mitchell JA, Packmann S, Loughman WD, et al. 1981. Deletion of different segments of the long arm of chromosome 4. Am J Med Genet 8: 73-89.
8. Stoetzel C, Muller J, Laurier V, et al. 2007. Identification of a novel BBS gene (BBS12 ) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 80: 1-11.
9. Strehle E., Bantock HM. 2003. The phenotype of patients with 4q-syndrome. Genet Couns 14(2): 195-205.
10. Thuresson AC, Bondeson ML, Edeby C, et al. 2008. Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation. Cytogenet Genome Res 118(1): 1-7.