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Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism.
J Perinatol. 1998 Sep-Oct; 18(5):395-8.JP

Abstract

Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q.

Authors+Show Affiliations

Department of OB/GYN, Baystate Medical Center, Springfield, MA 01199, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9766419

Citation

Habecker-Green, J G., et al. "Prenatal Diagnosis and Clinical Features of an Individual With Tetrasomy 18p and Trisomy 18q Mosaicism." Journal of Perinatology : Official Journal of the California Perinatal Association, vol. 18, no. 5, 1998, pp. 395-8.
Habecker-Green JG, Naeem R, Gold H, et al. Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. J Perinatol. 1998;18(5):395-8.
Habecker-Green, J. G., Naeem, R., Gold, H., O'Grady, J. P., Kanaan, C., Bayer-Zwirello, L., Murray, M. S., & Cohn, G. M. (1998). Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. Journal of Perinatology : Official Journal of the California Perinatal Association, 18(5), 395-8.
Habecker-Green JG, et al. Prenatal Diagnosis and Clinical Features of an Individual With Tetrasomy 18p and Trisomy 18q Mosaicism. J Perinatol. 1998 Sep-Oct;18(5):395-8. PubMed PMID: 9766419.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis and clinical features of an individual with tetrasomy 18p and trisomy 18q mosaicism. AU - Habecker-Green,J G, AU - Naeem,R, AU - Gold,H, AU - O'Grady,J P, AU - Kanaan,C, AU - Bayer-Zwirello,L, AU - Murray,M S, AU - Cohn,G M, PY - 1998/10/10/pubmed PY - 1998/10/10/medline PY - 1998/10/10/entrez SP - 395 EP - 8 JF - Journal of perinatology : official journal of the California Perinatal Association JO - J Perinatol VL - 18 IS - 5 N2 - Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q. SN - 0743-8346 UR - https://www.unboundmedicine.com/medline/citation/9766419/Prenatal_diagnosis_and_clinical_features_of_an_individual_with_tetrasomy_18p_and_trisomy_18q_mosaicism_ L2 - http://www.diseaseinfosearch.org/result/1484 DB - PRIME DP - Unbound Medicine ER -