ArticleItalian journal of pediatrics2021
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
Article in Italian journal of pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 50 citations in OpenAlex.
- Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome.European journal of haematology · 2026Article
- Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25).Experimental and therapeutic medicine · 2026Article
- Congenital cytomegalovirus infection and brain injury in a newborn following maternal non-primary infection: case report of an unexpected diagnosis.Italian journal of pediatrics · 2025Article
- KBG syndrome: report and follow-up on three unrelated patients observed at different ages.Italian journal of pediatrics · 2025Article
- Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.Frontiers in neurology · 2025Review
- Relationship between platelet count and severity of neonatal respiratory distress syndrome.Italian journal of pediatrics · 2024Article
- The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.Italian journal of pediatrics · 2024Article
- Positional plagiocephaly: results of the osteopathic treatment of 424 infants. An observational retrospective cohort study.Italian journal of pediatrics · 2024Observational
- Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.BMC pediatrics · 2024Article
- Catheters linked thrombosis in neonates: a single center observational study.Italian journal of pediatrics · 2024Observational
- A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.Italian journal of pediatrics · 2024Article
- Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.Italian journal of pediatrics · 2024Review
- Association of low vitamin D level and full-term early-onset neonatal sepsis; a case-control study.Italian journal of pediatrics · 2024Article
- Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.Italian journal of pediatrics · 2024Article
- Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.Italian journal of pediatrics · 2024Article
- Hematological abnormalities in Jacobsen syndrome: cytopenia of varying severities and morphological abnormalities in peripheral blood and bone marrow.Haematologica · 2023Article
- Report and follow-up on two new patients with congenital mesoblastic nephroma.Italian journal of pediatrics · 2023Article
- A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report.Journal of diabetes · 2023Article
- New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.Italian journal of pediatrics · 2023Article
- Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.Frontiers in genetics · 2023Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionIn 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.
conclusionsPresent 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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