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Pappalardo XG, Ruggieri M, Falsaperla R, et al. A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of . J Pediatr Genet. 2021;10(4):259-265doi: 10.1055/s-0041-1736458.
Pappalardo, X. G., Ruggieri, M., Falsaperla, R., Savasta, S., Raucci, U., & Pavone, P. (2021). A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of . Journal of pediatric genetics, 10(4), 259-265. https://doi.org/10.1055/s-0041-1736458
Pappalardo, Xena Giada, et al. "A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of ." Journal of pediatric genetics vol. 10,4 (2021): 259-265. doi: https://doi.org/10.1055/s-0041-1736458
Pappalardo XG, Ruggieri M, Falsaperla R, Savasta S, Raucci U, Pavone P. A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of . J Pediatr Genet. 2021 Nov 02;10(4):259-265. doi: 10.1055/s-0041-1736458. eCollection 2021 Dec. PMID: 34853711; PMCID: PMC8608485.
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J Pediatr Genet. 2021 Nov 02;10(4):259-265. doi: 10.1055/s-0041-1736458. eCollection 2021 Dec.

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of .

Journal of pediatric genetics

Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Salvatore Savasta, Umberto Raucci, Piero Pavone

Affiliations

  1. Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy.
  2. Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
  3. Section of Pediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, AOU "Policlinico," PO "G. Rodolico," University of Catania, Catania, Italy.
  4. Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU "Policlinico," PO "San Marco," University of Catania, Catania, Italy.
  5. Pediatric Clinic, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy.
  6. Pediatric Intensive Care Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.

PMID: 34853711 PMCID: PMC8608485 DOI: 10.1055/s-0041-1736458

Abstract

The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of

Thieme. All rights reserved.

Keywords: 4q deletion syndrome; MARCH1 gene ; adducted thumbs; aggressive behavior; craniofacial features; marked speech delay; precocious dentition

Conflict of interest statement

Conflict of Interest None declared.

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