Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
| Autor: | Mario Giuffrè, Gregorio Serra, Luigi Memo, Valentina Favero, Vincenzo Antona, Giovanni Corsello, Paola Lago |
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| Přispěvatelé: | Serra G., Memo L., Antona V., Corsello G., Favero V., Lago P., Giuffre M. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Genotype-phenotype correlation Heart disease Genetic counseling Case Report In situ hybridization 030105 genetics & heredity RJ1-570 03 medical and health sciences 0302 clinical medicine aCGH JBS medicine Humans Jacobsen Distal 11q Deletion Syndrome Jacobsen syndrome Craniofacial Genetic Association Studies Cerebral Hemorrhage 11q23 deletion business.industry Infant Newborn Early diagnosi medicine.disease Early diagnosis Pancytopenia Thrombocytopenia Italy Female Presentation (obstetrics) business 030217 neurology & neurosurgery Comparative genomic hybridization |
| Zdroj: | Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-8 (2021) Italian Journal of Pediatrics |
| ISSN: | 1824-7288 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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