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Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).
Genet Couns. 2002; 13(3):303-7.GC

Abstract

A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.

Authors+Show Affiliations

michaela.tschernigg@kfunigraz.ac.atNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12416638

Citation

Tschernigg, M, et al. "Terminal Tandem Duplication of 16p: a Case With "pure" Partial Trisomy (16)(pter-->p13)." Genetic Counseling (Geneva, Switzerland), vol. 13, no. 3, 2002, pp. 303-7.
Tschernigg M, Petek E, Leonhardtsberger A, et al. Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13). Genet Couns. 2002;13(3):303-7.
Tschernigg, M., Petek, E., Leonhardtsberger, A., Wagner, K., & Kroisel, P. M. (2002). Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13). Genetic Counseling (Geneva, Switzerland), 13(3), 303-7.
Tschernigg M, et al. Terminal Tandem Duplication of 16p: a Case With "pure" Partial Trisomy (16)(pter-->p13). Genet Couns. 2002;13(3):303-7. PubMed PMID: 12416638.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13). AU - Tschernigg,M, AU - Petek,E, AU - Leonhardtsberger,A, AU - Wagner,K, AU - Kroisel,P M, PY - 2002/11/6/pubmed PY - 2003/2/14/medline PY - 2002/11/6/entrez SP - 303 EP - 7 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 13 IS - 3 N2 - A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/12416638/Terminal_tandem_duplication_of_16p:_a_case_with_"pure"_partial_trisomy__16__pter__>p13__ L2 - https://www.diseaseinfosearch.org/result/5617 DB - PRIME DP - Unbound Medicine ER -