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Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat.
Am J Med Genet A 2004; 124A(3):292-5AJ

Abstract

The isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or by FISH-detectable microdeletions of the 17p13.3 region, which carries the LIS1 gene. These have various patterns of phenotypic presentations, including the Miller-Dieker syndrome (MDS). Approximately 20% of these deletions are associated with a derivative chromosome 17 inherited from a parent who has a balanced reciprocal translocation involving chromosome 17 and another chromosome. We report a case of lissencephaly associated with a maternally inherited unbalanced translocation involving chromosome arms 17p and 20p. This results in partial monosomy of 17p13.3-->pter and partial trisomy of 20p12.2-->pter. To our knowledge, this is the first report of a reciprocal translocation between 17p and 20p. Our patient has a combination of findings of the MDS and trisomy 20p, along with several unique anomalies not described in either of those two conditions. This report may contribute to the delineation of a phenotype resulting from partial monosomy 17p and partial trisomy of 20p.

Authors+Show Affiliations

F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Department of Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

14708103

Citation

Thomas, Mary Ann, et al. "Lissencephaly With Der(17)t(17;20)(p13.3;p12.2)mat." American Journal of Medical Genetics. Part A, vol. 124A, no. 3, 2004, pp. 292-5.
Thomas MA, Duncan AM, Bardin C, et al. Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. Am J Med Genet A. 2004;124A(3):292-5.
Thomas, M. A., Duncan, A. M., Bardin, C., & Kaloustian, V. M. (2004). Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. American Journal of Medical Genetics. Part A, 124A(3), pp. 292-5.
Thomas MA, et al. Lissencephaly With Der(17)t(17;20)(p13.3;p12.2)mat. Am J Med Genet A. 2004 Jan 30;124A(3):292-5. PubMed PMID: 14708103.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat. AU - Thomas,Mary Ann, AU - Duncan,Alessandra M V, AU - Bardin,Claudette, AU - Kaloustian,Vazken M Der, PY - 2004/1/7/pubmed PY - 2004/7/29/medline PY - 2004/1/7/entrez SP - 292 EP - 5 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 124A IS - 3 N2 - The isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or by FISH-detectable microdeletions of the 17p13.3 region, which carries the LIS1 gene. These have various patterns of phenotypic presentations, including the Miller-Dieker syndrome (MDS). Approximately 20% of these deletions are associated with a derivative chromosome 17 inherited from a parent who has a balanced reciprocal translocation involving chromosome 17 and another chromosome. We report a case of lissencephaly associated with a maternally inherited unbalanced translocation involving chromosome arms 17p and 20p. This results in partial monosomy of 17p13.3-->pter and partial trisomy of 20p12.2-->pter. To our knowledge, this is the first report of a reciprocal translocation between 17p and 20p. Our patient has a combination of findings of the MDS and trisomy 20p, along with several unique anomalies not described in either of those two conditions. This report may contribute to the delineation of a phenotype resulting from partial monosomy 17p and partial trisomy of 20p. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/14708103/Lissencephaly_with_der_17_t_17 L2 - https://doi.org/10.1002/ajmg.a.20373 DB - PRIME DP - Unbound Medicine ER -