A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.
17p13.3p13.1 microduplication
Chromosomal microarray analysis
FISH
Journal
Molecular cytogenetics
ISSN: 1755-8166
Titre abrégé: Mol Cytogenet
Pays: England
ID NLM: 101317942
Informations de publication
Date de publication:
31 Aug 2021
31 Aug 2021
Historique:
received:
05
04
2021
accepted:
29
07
2021
entrez:
1
9
2021
pubmed:
2
9
2021
medline:
2
9
2021
Statut:
epublish
Résumé
Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17) translocation of maternal origin. Clinical features of the patient are also discussed. The advisability of using the combination of CMA and FISH analysis is shown. Copy number gains detected by clinical CMA should be confirmed using FISH analysis in order to determine the physical location of the duplicated segment. Parental follow-up studies is an important step to determine the origin of genomic imbalance. This approach not only allows a most comprehensive characterization of an identified chromosomal/genomic imbalance but also provision of an adequate medical and genetic counseling for a family taking into account a balanced chromosomal rearrangement.
Identifiants
pubmed: 34465353
doi: 10.1186/s13039-021-00562-1
pii: 10.1186/s13039-021-00562-1
pmc: PMC8408977
doi:
Types de publication
Journal Article
Langues
eng
Pagination
41Informations de copyright
© 2021. The Author(s).
Références
BMC Med Genet. 2020 Feb 6;21(1):26
pubmed: 32028920
FEBS Lett. 2004 Aug 13;572(1-3):159-66
pubmed: 15304341
BMC Med Genomics. 2018 Aug 20;11(1):69
pubmed: 30126420
Sci Rep. 2018 Jun 21;8(1):9449
pubmed: 29930340
J Med Genet. 2009 Oct;46(10):703-10
pubmed: 19520700
Genet Med. 2008 Aug;10(8):599-611
pubmed: 18641517
PLoS Genet. 2007 Dec;3(12):e237
pubmed: 18159949
Eur J Hum Genet. 2011 Nov;19(11):1144-51
pubmed: 21629300
Mol Cytogenet. 2015 Sep 02;8:70
pubmed: 26336513
Eur J Med Genet. 2020 Apr;63(4):103774
pubmed: 31585183
BMC Med Genet. 2012 Oct 04;13:93
pubmed: 23035971
J Hum Genet. 2017 Oct;62(10):877-884
pubmed: 28539665
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2015 Jun;159(2):333-7
pubmed: 25690523
Genome Res. 2002 Nov;12(11):1663-72
pubmed: 12421752
Am J Med Genet A. 2011 Apr;155A(4):875-9
pubmed: 21595003
Front Genet. 2018 Mar 23;9:80
pubmed: 29628935
Genomics. 2008 Feb;91(2):195-202
pubmed: 18060736
Am J Med Genet A. 2013 Aug;161A(8):1833-52
pubmed: 23813913
Epilepsy Res. 2010 May;89(2-3):303-9
pubmed: 20227246
Adv Exp Med Biol. 2018;1044:1-14
pubmed: 29956287
Case Rep Med. 2012;2012:840538
pubmed: 23118768
BMC Med Genet. 2019 Jun 14;20(1):108
pubmed: 31200655
Nat Genet. 2009 Feb;41(2):168-77
pubmed: 19136950
Clin Genet. 2007 Oct;72(4):362-8
pubmed: 17850634
J Med Genet. 2010 May;47(5):299-311
pubmed: 20452996
Mol Syndromol. 2012 Aug;3(2):82-8
pubmed: 23326253
Eur J Med Genet. 2011 May-Jun;54(3):287-91
pubmed: 21195811