Multiple cerebral cysts are another possible feature of Jacobsen syndrome

Yuri Dowa; Takashi Shiihara

doi:10.1016/j.braindev.2020.06.019

Multiple cerebral cysts are another possible feature of Jacobsen syndrome

Brain and Development ◽

10.1016/j.braindev.2020.06.019 ◽

2020 ◽

Vol 42 (8) ◽

pp. 626

Author(s):

Yuri Dowa ◽

Takashi Shiihara

Keyword(s):

Jacobsen Syndrome ◽

Cerebral Cysts

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Jacobsen syndrome: a rare differential diagnosis of multifocal white matter lesions

Neuropediatrics ◽

10.1055/s-0033-1337865 ◽

2013 ◽

Vol 44 (02) ◽

Cited By ~ 2

Author(s):

K Albers ◽

C Jung ◽

M Asmussen ◽

V Prietsch

Keyword(s):

Differential Diagnosis ◽

White Matter ◽

White Matter Lesions ◽

Jacobsen Syndrome ◽

Rare Differential Diagnosis

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Jacobsen Syndrome Detected by Noninvasive Prenatal Testing

Obstetrics and Gynecology ◽

10.1097/aog.0000000000000528 ◽

2015 ◽

Vol 125 (2) ◽

pp. 387-389 ◽

Cited By ~ 2

Author(s):

Jamie O. Lo ◽

Cori D. Feist ◽

Jason Hashima ◽

Brian L. Shaffer

Keyword(s):

Prenatal Testing ◽

Noninvasive Prenatal Testing ◽

Jacobsen Syndrome

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Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01108-2 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Gregorio Serra ◽

Luigi Memo ◽

Vincenzo Antona ◽

Giovanni Corsello ◽

Valentina Favero ◽

...

Keyword(s):

Developmental Delay ◽

De Novo ◽

Comparative Genomic ◽

Fish Analysis ◽

Variable Degree ◽

Jacobsen Syndrome ◽

Contiguous Gene ◽

Clinical Consequences ◽

11Q Deletion

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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