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Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.
Am J Med Genet. 1987 Jan; 26(1):203-6.AJ

Abstract

We report on a male infant with a duplication 9p (pter----q13) and duplication 16p (p13----pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene-Diagram Model of Jalbert et al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported.

Authors

No 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
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3812563

Citation

Mori, M A., et al. "Partial Duplication 16p Resulting From a 3:1 Segregation of a Maternal Reciprocal Translocation." American Journal of Medical Genetics, vol. 26, no. 1, 1987, pp. 203-6.
Mori MA, Gomar JL, Diaz de Bustamante A, et al. Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. Am J Med Genet. 1987;26(1):203-6.
Mori, M. A., Gomar, J. L., Diaz de Bustamante, A., Ananias, A., Pinel, I., & Martinez-Frias, M. L. (1987). Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. American Journal of Medical Genetics, 26(1), 203-6.
Mori MA, et al. Partial Duplication 16p Resulting From a 3:1 Segregation of a Maternal Reciprocal Translocation. Am J Med Genet. 1987;26(1):203-6. PubMed PMID: 3812563.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation. AU - Mori,M A, AU - Gomar,J L, AU - Diaz de Bustamante,A, AU - Ananias,A, AU - Pinel,I, AU - Martinez-Frias,M L, PY - 1987/1/1/pubmed PY - 1987/1/1/medline PY - 1987/1/1/entrez SP - 203 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 26 IS - 1 N2 - We report on a male infant with a duplication 9p (pter----q13) and duplication 16p (p13----pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene-Diagram Model of Jalbert et al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3812563/Partial_duplication_16p_resulting_from_a_3:1_segregation_of_a_maternal_reciprocal_translocation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=26&issue=1&spage=203 DB - PRIME DP - Unbound Medicine ER -