A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

E Petrova, C Neuner, T Haaf, M Schmid, J Wirbelauer, A Jurkutat, K Wermke, I Nanda, E Kunstmann

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Article in Molecular syndromology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.Molecular syndromology · 2022
Article
A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.Molecular syndromology · 2017
Article

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Authors and funding

9 authors.

E PetrovaInstitute for Human Genetics, University of Wuerzburg, Wuerzburg, Germany.

C NeunerInstitute for Human Genetics, University of Wuerzburg, Wuerzburg, Germany.

T HaafInstitute for Human Genetics, University of Wuerzburg, Wuerzburg, Germany.

M SchmidInstitute for Human Genetics, University of Wuerzburg, Wuerzburg, Germany.

J WirbelauerUniversity Children's Hospital, University of Wuerzburg, Wuerzburg, Germany.

A JurkutatDepartment of Special Education, Speech and Language Pathology, University of Wuerzburg, Wuerzburg, Germany.

K WermkeDepartment of Orthodontics, Center for Pre-Speech Development and Developmental Disorders, University of Wuerzburg, Wuerzburg, Germany.

I NandaInstitute for Human Genetics, University of Wuerzburg, Wuerzburg, Germany.

E KunstmannInstitute for Human Genetics, University of Wuerzburg, Wuerzburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The recurrent 10q22.3q23.2 deletion with breakpoints within low copy repeats 3 and 4 is a rare genomic disorder, reported in only 13 patients to date. The phenotype is rather uncharacteristic, which makes a clinical diagnosis difficult. A phenotypic feature described in almost all patients is a delay in speech development, albeit systematic studies are still pending. In this study, we report on a boy with an LCR3/4-flanked 10q22.3q23.2 deletion exhibiting an age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. The phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable, so counseling the families regarding the prognosis of an affected child should be done with caution. Long-term studies of affected children are needed to delineate the natural history of this rare disorder.

Indexed as

BMPRA1Cleft palateLanguage developmentLCR3/4-flanked 10q22.3q23.2 deletion

Identifiers

PMID24550761

DOI10.1159/000355847

PMCPMC3919489

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