Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
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 report...
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doaj-158a3cbf72194178a7614ab2709b715a2021-07-04T11:53:40ZengBMCItalian Journal of Pediatrics1824-72882021-07-014711810.1186/s13052-021-01108-2Jacobsen syndrome and neonatal bleeding: report on two unrelated patientsGregorio Serra0Luigi Memo1Vincenzo Antona2Giovanni Corsello3Valentina Favero4Paola Lago5Mario Giuffrè6Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoClinical Genetics Outpatient Service, Neonatology and Neonatal Intensive Care Unit, San Bortolo HospitalDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoNeonatal Intensive Care Unit, Ca’ Foncello HospitalNeonatal Intensive Care Unit, Ca’ Foncello HospitalDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoAbstract 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.https://doi.org/10.1186/s13052-021-01108-2JBS11q23 deletionaCGHThrombocytopeniaEarly diagnosisGenotype-phenotype correlation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Gregorio Serra Luigi Memo Vincenzo Antona Giovanni Corsello Valentina Favero Paola Lago Mario Giuffrè |
spellingShingle |
Gregorio Serra Luigi Memo Vincenzo Antona Giovanni Corsello Valentina Favero Paola Lago Mario Giuffrè Jacobsen syndrome and neonatal bleeding: report on two unrelated patients Italian Journal of Pediatrics JBS 11q23 deletion aCGH Thrombocytopenia Early diagnosis Genotype-phenotype correlation |
author_facet |
Gregorio Serra Luigi Memo Vincenzo Antona Giovanni Corsello Valentina Favero Paola Lago Mario Giuffrè |
author_sort |
Gregorio Serra |
title |
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
title_short |
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
title_full |
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
title_fullStr |
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
title_full_unstemmed |
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
title_sort |
jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
publisher |
BMC |
series |
Italian Journal of Pediatrics |
issn |
1824-7288 |
publishDate |
2021-07-01 |
description |
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. |
topic |
JBS 11q23 deletion aCGH Thrombocytopenia Early diagnosis Genotype-phenotype correlation |
url |
https://doi.org/10.1186/s13052-021-01108-2 |
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