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Italian Journal of Pediatrics

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Open Access 01-12-2021 | Thrombocytopenia | Case report

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Authors: Gregorio Serra, Luigi Memo, Vincenzo Antona, Giovanni Corsello, Valentina Favero, Paola Lago, Mario Giuffrè

Published in: Italian Journal of Pediatrics | Issue 1/2021

Abstract

Introduction

In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified.

Patients’ presentation

We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations.

Conclusions

Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.

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Title: Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
Authors: Gregorio Serra
Luigi Memo
Vincenzo Antona
Giovanni Corsello
Valentina Favero
Paola Lago
Mario Giuffrè
Publication date: 01-12-2021
Publisher: BioMed Central
Keyword: Thrombocytopenia
Published in: Italian Journal of Pediatrics / Issue 1/2021
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-021-01108-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Abstract

Introduction

Patients’ presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Patients’ presentation

Conclusions

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