Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

Prenatal Diagnosis

Volumn 19, Issue 1, 1999, Pages 49-53

  Faivre, L ^a   Morichon Delvallez, N ^a   Viot, G ^a   Martinovic, J ^b   Pinson, M P ^a   Aubry, J P ^a   Raclin, V ^a   Edery, P ^a   Dumez, Y ^a   Munnich, A ^a   Vekemans, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL SAINT ANTOINE   (France)

Author keywords

Cerebral ventricular dilatation; Deletion of the short arm of chromosome 1; Ebstein anomaly; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; AUTOPSY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 1P; CLINICAL FEATURE; CYTOGENETICS; EBSTEIN ANOMALY; FEMALE; FETUS; GENE DELETION; HEART FAILURE; HUMAN; HUMAN CELL; HYPOTELORISM; MULTIPLE MALFORMATION SYNDROME; PATIENT COUNSELING; PHENOTYPE; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ULTRASOUND;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOMES, HUMAN, PAIR 1; FACIAL BONES; FEMALE; GENE DELETION; HUMANS; HYDROPS FETALIS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 0032899034     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199901)19:1<49::AID-PD450>3.0.CO;2-C     Document Type: Article

References (20)

1. Abbas, N., Novelli, G., Carlo Stella, N., Triolo, O., Corrado, F., Fellous, M., Chery, M., Gilgenkrantz, S., Dallapiccola, B. (1990). A 45.X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1, Hum. Genet., 86, 94-98.
2. Barbi, G., Kennerknecht, I., Klett, C. (1992). Reciprocal translocation t(1:15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting mososomy (1p), Am. J. Med. Genet., 43, 722-725.
3. Biegel, J.A., White, P.S., Marshall, H.N., Fujimori, M., Zackai, E.H., Scher,C.D., Brodeur, G.M.,Emmanuel, B.S. (1993). Constitutional 1p36 deletion in a child with neuroblastoma, Am. J. Hum. Genet., 52, 176-182.
4. Blennow, E., Bui, T., Wallin, A., Kogner, P. (1996). Monosomy 1p36.31-33→pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis, Am. J. Mad. Genet., 65, 60-67.
5. Bos, C., Opheim, K.E., Hudgins, L. (1996). Deletion (1)(p36.31) in a patient with features of Alagille syndrome (arteriohepatic dysplasia), Am J. Hum. Genet., 59(Suppl). A112.
6. Deslanges, F., Mourrieras, P., Papouin-Rauzy, M., Saliou, P. (1983). Monosomy 1 pter due to familial 1(1:9), Ann. Génét., 26, 53-55.
7. Eugster, E.A., Berry, S.A., Hirsch, B. (1997). Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia, Am. J. Med. Genet., 70, 409-412.
8. Giraudeau, F., Aubert, D., Young, I., Horsley, S., Knight, S., Kearney, L., Vergnaud, G., Flint, J. (1997). Molecular-cytogenetic detection of a deletion of 1p36.3, J. Med. Genet., 34, 314-317.
9. Hain, D., Leversha, M., Campbell, N., Daniel, A., Barr, P.A., Rogers, J.G. (1980). The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation, Aust. Paediat. J., 16, 196-200.
10. Howard-Peebles, P.N., Black, S.H. (1994). FISH identification of a deletion 1p36 from a half cryptic maternal translocation, Am. J. Med. Genet., 52, 381.
11. Keppler-Noreuil, K.M., Carroll, A.J., Finley, W.H., Lane Rutlrdge, S. (1995). Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes, J. Med. Genet., 32, 619-622.
12. Magenis, R.E., Sheehy, R., Lacey, D., Brown, M.G., Litt, M. (1987). Small terminal deletion of chromosome 1 short arm in an infant with multiple anomalies: confirmation by in situ hybridization of probe p 1-79, Am. J. Hum. Genet., 41(Suppl.), A130.
13. Reish, O., Berry, S.A., Hirsh, B. (1995). Partial monosomy of chromosome 1p36.3, Am. J. Med. Genet., 59, 467-475.
14. Robbins-Furman, P., Elder, F.F.B., Mastrobattista, J.M., Northrup, H., Shapira, S.K. (1997). Prenatal diagnosis of deletion Ip36 syndrome, Am. J. Hum. Genet., 61(Suppl.), A139.
15. Sandlin, C.J., Dodd, B.S., Dumars, K.W., Bartley, J.A., Bernstein, R., Lamb, A. (1995). Phenotypes associated with terminal deletion of the short arm of chromosome 1, Am. J. Hum. Genet., 57(Suppl.), A125.
16. Shapira, S.K., McCaskill, C., Northrup, H., Spikes, A.S., Elder, F.F.B., Reid Sutton, V., Korenberg, J.R., Greenberg, F., Shaffer, L.G. (1997). Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome, Am. J. Hum. Genet., 61, 642-650.
17. Steele, M.W., Wenger, S.L., Geweke, L.O., Golden, W.L. (1984). The level of 6-phosphogluconate deshydrogenase (6-PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1, Clin. Genet., 25, 59-62.
18. Wargowski, D., Sekkon, G., Laxova, R., Thompson, K., Kent, C. (1991). Terminal deletions of band 1p.36: emergence of two overlapping phenotypes, Am. J. Hum. Genet., 49(Suppl.), 278.
19. Wexler, P., Gilfillan, T., McGavran, L., Sujansky, E. (1991). Deletions (1)(p36.3) and the potential role of high resolution chromosome analysis, Am. J. Hum. Genet., 49(Suppl.), 278.
20. Yunis, E., Quintero, L., Leibovici, M. (1981). Monosomy 1pter,. Hum. Genet., 56, 279-282.