Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome

The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial delet...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2006-04, Vol.140A (7), p.704-708
Main Authors: Wenger, Sharon L., Grossfeld, Paul D., Siu, Benjamin L., Coad, James E., Keller, Frank G., Hummel, Marybeth
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Child
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 11 - genetics
congenital thrombocytopenia
contiguous gene syndrome
Craniofacial Abnormalities
Developmental Disabilities - pathology
Female
Heart Defects, Congenital - pathology
Hematologic and hematopoietic diseases
Humans
In Situ Hybridization, Fluorescence
Jacobsen syndrome
Karyotyping
Medical sciences
Paris-Trousseau
Platelet diseases and coagulopathies
Syndrome
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Summary:The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris‐Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris‐Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI‐1, but not JAM‐3, which will help to determine the critical genes involved in this syndrome. © 2006 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31146