Pasińska M, Adamczak R, Repczyńska A, Łazarczyk E, Iskra B, Runge AK, Haus O. Prenatal identification of partial 3q duplication syndrome. BMC Med Genomics. 2019;12(1):85.
Article PubMed PubMed Central Google Scholar
Grossmann V, Müller D, Müller W, Fresser F, Erdel M, Janecke AR, Zschocke J, Utermann G, Kotzot D. “Essentially” pure trisomy 3q27 –> qter: further delineation of the partial trisomy 3q phenotype. Am J Med Genet A. 2009;149A(11):2522–6.
Article CAS PubMed Google Scholar
Abreu-González M, García-Delgado C, Cervantes A, Aparicio-Onofre A, Guevara-Yáñez R, Sánchez-Urbina R, et al. Clinical, cytogenetic, and biochemical analyses of a family with a t(3;13)(q26.2;p11.2): further delineation of 3q duplication syndrome. Case Rep Genet. 2013;2013:895259.
Falek A, Schmidt R, Jervis GA. Familial de Lange syndrome with chromosome abnormalities. Pediatrics. 1966;37(1):92–101.
Article CAS PubMed Google Scholar
Dworschak GC, Crétolle C, Hilger A, Engels H, Korsch E, Reutter H, Ludwig M. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. Clin Genet. 2017;91(5):661–71.
Article CAS PubMed Google Scholar
Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A. Duplication 3q syndrome: molecular delineation of the critical region. Am J Med Genet. 1995;55(1):33–7.
Article CAS PubMed Google Scholar
Imataka G, Watabe Y, Kajitani S, Watanabe S, Ichikawa J, Drago F, Suzumura H, Yoshihara S. Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: a case report. Rare Exp Ther Med. 2017;13(6):3494–6.
Arıkan DC, Coşkun A, Arıkan I, Kıran G, Ceylaner G. Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype. J Turk Ger Gynecol Assoc. 2010;11(4):228–32.
Article PubMed PubMed Central Google Scholar
Petersen OB, Smith E, Van Opstal D, Polak M, Knapen MFCM, Diderich KEM, Bilardo CM, Arends LR, Vogel I, Srebniak MI. Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. Acta Obstet Gynecol Scand. 2020;99(6):765–74.
Article CAS PubMed Google Scholar
Dipasquale V, Serra G, Corsello G, Romano C. Standard and specialized infant formulas in Europe: making, marketing, and health outcomes. Nutr Clin Pract. 2020;35(2):273–81.
World Health Organization. Child growth standards. 2021. https://www.who.int/tools/child-growth-standards/standards.
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources). https://www.deciphergenomics.org/browser#q/MCF2L2/location/3:182870771-193854071.
Faas BHW, De Vries BBA, Van Es-Van GJ, Merkx G, Draaisma JMT, Smeets DFCM. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet. 2002;62(4):315–20.
Article CAS PubMed Google Scholar
Meins M, Hagh JK, Gerresheim F, Einhoff E, Olschewski H, Strehl H, Epplen JT. Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region. Am J Med Genet A. 2005;132A(1):84–9.
Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr. 1978;93(5):783–8.
Article CAS PubMed Google Scholar
Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet. 2008;1:8.
Article PubMed PubMed Central Google Scholar
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA. 3q29 interstitial microduplication: a new syndrome in a three-generation family. Am J Med Genet A. 2008;146A(5):601–9.
Azar GM, Conte RA, Kleyman SM, Logush AZ, Verma RS. Probing the human genome in search for a new 3q syndrome. Ann Genet. 1999;42(2):95–100.
European cytogeneticists association register of unbalanced chromosome aberrations (ECARUCA): http://agserver01.azn.nl:8080/ecaruca/ecaruca.jsp.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005;77(1):154–60.
Article CAS PubMed PubMed Central Google Scholar
Rosenfeld W, Verma RS, Jhaveri RC, Estrada R, Evans H, Dosik H. Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q. Am J Med Genet. 1981;10(2):187–92.
Article CAS PubMed Google Scholar
Serra G, Antona V, Giuffrè M, Piro E, Salerno S, Schierz IAM, Corsello G. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles. Ital J Pediatr. 2022;48(1):38.
Article CAS PubMed PubMed Central Google Scholar
Piro E, Serra G, Giuffrè M, Schierz IAM, Corsello G. 2q13 microdeletion syndrome: report on a newborn with additional features expanding the phenotype. Clin Case Rep. 2021;9:e04289.
Serra G, Memo L, Antona V, Corsello G, Favero V, Lago P, Giuffrè M. Jacobsen syndrome and neonatal bleeding: report on two unrelated patients. Ital J Pediatr. 2021;47:147.
Article CAS PubMed PubMed Central Google Scholar
Schierz IAM, Giuffrè M, Cimador M, D’Alessandro MM, Serra G, Favata F, Antona V, Piro E, Corsello G. Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report. Ital J Pediatr. 2022;48:19.
Article CAS PubMed PubMed Central Google Scholar
Serra G, Felice S, Antona V, Di Pace MR, Giuffrè M, Piro E, Corsello G. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP2K2 gene. Ital J Pediatr. 2022;48:65.
Article PubMed PubMed Central Google Scholar
Serra G, Giambrone C, Antona V, Cardella F, Carta M, Cimador M, Corsello G, Giuffrè M, Insinga V, Maggio MC, Pensabene M, Schierz IAM, Piro E. Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome. Ital J Pediatr. 2022;48(1):170.
Article CAS PubMed PubMed Central Google Scholar
National Center for Biotechnology Information (NCBI)-Genome data viewer: https://www.ncbi.nlm.nih.gov/genome/gdv/browser/genome/?id=GCF_000001405.25.
National Center for Biotechnology Information (NCBI)-Gene: https://www.ncbi.nlm.nih.gov/gene.
du Fossé NA, van der Hoorn MLP, van Lith JMM, le Cessie S, Lashley EELO. Advanced paternal age is associated with an increased risk of spontaneous miscarriage: a systematic review and meta-analysis. Hum Reprod Update. 2020;26(5):650–69.
Article PubMed PubMed Central Google Scholar
Chen W, Peng Y, Ma X, Kong S, Tan S, Wei Y, Zhao Y, Zhang W, Wang Y, Yan L, Qiao J. Integrated multi-omics reveal epigenomic disturbance of assisted reproductive technologies in human offspring. EBioMedicine. 2020;61: 103076.
Article PubMed PubMed Central Google Scholar
Zhu H, Hu Y, Zhu R, Yang Y, Zhu X, Wang W. A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies. Am J Med Genet. 2013;161A:327–30.
Coelho Molck M, Simioni M, Paiva Vieira T, Paoli Monteiro F, Gil-da-Silva-Lopes VL. A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome. Mol Syndromol. 2018;9(4):197–204.
Article CAS PubMed PubMed Central Google Scholar
Serra G, Antona V, Schierz M, Vecchio D, Piro E, Corsello G. Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. Clin Case Rep. 2018;6(2):399–401.
Article PubMed PubMed Central Google Scholar
Piro E, Schierz IAM, Antona V, Pappalardo MP, Giuffrè M, Serra G, Corsello G. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation. Ital J Pediatr. 2020;46:136.
Article CAS PubMed PubMed Central Google Scholar
Serra G, Corsello G, Antona V, D’Alessandro MM, Cassata N, Cimador M, Giuffrè M, Schierz IAM, Piro E. Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome. Ital J Pediatr. 2020;46:154.
Article CAS PubMed PubMed Central Google Scholar
Piro E, Serra G, Antona V, Giuffrè M, Giorgio E, Sirchia F, Schierz IAM, Brusco A, Corsello G. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient. Ital J Pediatr. 2020;46(1):140.
Article CAS PubMed PubMed Central Google Scholar
Serra G, Antona V, Giuffré M, Li Pomi F, Lo Scalzo L, Piro E, Schierz IAM, Corsello G. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome: clinical report and follow-up. Ital J Pediatr. 2021;47:196.
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