NDLI: Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Guerin, Andrea Stavropoulos, Dimitri J. Diab, Yaser Chénier, Sébastien Christensen, Hilary Kahr, Walter H. A. Babul-Hirji, Riyana Chitayat, David
Description	Country affiliation: Canada Author Affiliation: Guerin A ( Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.)
Abstract	Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The clinical findings include characteristic dysmorphic features, growth and psychomotor delays and developmental anomalies involving the brain, eyes, heart, kidneys, immune, hematologic, endocrine, and gastrointestinal systems. The majority of cases are due to a terminal deletion of 11q; however interstitial deletions have also been reported. We report on a child with clinical manifestations consistent with JS who had a 2.899 Mb interstitial deletion at 11q24.2-q24.3 which is the smallest interstitial deletion reported so far to our knowledge. This deletion includes the KIRREL3 gene, and given our patient's history of neurocognitive delay and autism spectrum disorder, it raises the possibility that this gene is a candidate for the social and expressive language delay observed in our patient.
File Format	HTM / HTML
ISSN	15524825
Issue Number	10
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-10-01
Publisher Place	United States
Access Restriction	Subscribed
Subject Keyword	Discipline Human Discipline Genetics Carrier Proteins Genetics Child Development Disorders, Pervasive Chromosome Deletion Chromosomes, Human, Pair 11 Jacobsen Distal 11q Deletion Syndrome Membrane Proteins Brain Physiopathology Child, Preschool Female Humans Radiography Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject Domain (in MeSH)	Nervous System Cells Eukaryota Hemic and Lymphatic Diseases Pathological Conditions, Signs and Symptoms Amino Acids, Peptides, and Proteins Diagnosis Mental Disorders Persons
Subject	Genetics (clinical) Genetics

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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.

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Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.

Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q.

Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

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A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

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Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.

Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q.

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