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First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.
Am J Med Genet. 2000 Mar 20; 91(3):201-3.AJ

Abstract

Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this report. We describe the clinical manifestations and cytogenetic analysis in a child with an inverted duplication of 19q 13.3 to 13.4 confirmed by FISH using a chromosome 19 whole chromosome probe. This case represents the first report of a liveborn with "pure" distal trisomy 19q. Findings defining this uncommon aneusomy are a flat facies, down turned mouth, abnormal ears, and a short neck with redundant skin folds.

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Authors+Show Affiliations

Bhat M
Regional Medical Genetics Centre, Belfast City Hospital Trust, Belfast, United Kingdom.
Morrison PJ
No affiliation info available
Getty A
No affiliation info available
McManus D
No affiliation info available
Tubman R
No affiliation info available
Nevin NC
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome BandingChromosome DisordersChromosomes, Human, Pair 19Gene DuplicationHumansIn Situ Hybridization, FluorescenceInfantKaryotypingMaleTrisomy

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10756343

Citation

Bhat, M, et al. "First Clinical Case of Small De Novo Duplication of 19q (13.3-13.4) Confirmed By FISH." American Journal of Medical Genetics, vol. 91, no. 3, 2000, pp. 201-3.
Bhat M, Morrison PJ, Getty A, et al. First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH. Am J Med Genet. 2000;91(3):201-3.
Bhat, M., Morrison, P. J., Getty, A., McManus, D., Tubman, R., & Nevin, N. C. (2000). First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH. American Journal of Medical Genetics, 91(3), 201-3.
Bhat M, et al. First Clinical Case of Small De Novo Duplication of 19q (13.3-13.4) Confirmed By FISH. Am J Med Genet. 2000 Mar 20;91(3):201-3. PubMed PMID: 10756343.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH. AU - Bhat,M, AU - Morrison,P J, AU - Getty,A, AU - McManus,D, AU - Tubman,R, AU - Nevin,N C, PY - 2000/4/11/pubmed PY - 2000/6/8/medline PY - 2000/4/11/entrez SP - 201 EP - 3 JF - American journal of medical genetics JO - Am J Med Genet VL - 91 IS - 3 N2 - Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this report. We describe the clinical manifestations and cytogenetic analysis in a child with an inverted duplication of 19q 13.3 to 13.4 confirmed by FISH using a chromosome 19 whole chromosome probe. This case represents the first report of a liveborn with "pure" distal trisomy 19q. Findings defining this uncommon aneusomy are a flat facies, down turned mouth, abnormal ears, and a short neck with redundant skin folds. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10756343/First_clinical_case_of_small_de_novo_duplication_of_19q__13_3_13_4__confirmed_by_FISH_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=91&issue=3&spage=201 DB - PRIME DP - Unbound Medicine ER -