NDLI: Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

Communication with parents counts.

Introductory comments on special section-genomic microduplications: When adding may equal subtracting.

Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

The MECP2 duplication syndrome.

Challenges in clinical interpretation of microduplications detected by array CGH analysis.

Genomic and clinical characteristics of microduplications in chromosome 17.

Cornelia de Lange syndrome: extending the physical and psychological phenotype.

Quality of life in rare genetic conditions: a systematic review of the literature.

Mutation of CANT1 causes Desbuquois dysplasia.

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Polygenic inheritance of adolescent idiopathic scoliosis: a study of extended families in Utah.

Immunohistochemistry in non-immune hydrops fetalis: a single center experience in 79 fetuses.

Linking MECP2 and pain sensitivity: the example of Rett syndrome.

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Family communication about genetic risk information: particular issues for Duchenne muscular dystrophy.

Molecular and clinical characterization of patients with overlapping 10p deletions.

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Consent for genetic research in the Framingham Heart Study.

Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.

Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (Part 2)

Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (Part 1)

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial $features^{†}$

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

Wolf-Hirschhorn syndrome with improvement of renal function.

A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.

Premature ovarian failure, absence of pubic and axillary hair with de novo $46,X,t(X;15)(q24;q26.3)^{†‡}$

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.

Callosal agenesis and left ventricular hypertrabeculation/noncompaction.

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Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Berg, Jonathan S. Potocki, Lorraine Bacino, Carlos A.
Description	Country affiliation: United States Author Affiliation: Berg JS ( Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.)
Abstract	Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available.
File Format	HTM / HTML
ISSN	15524825
Issue Number	5
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-05-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Diagnosis Therapy Gene Duplication Genetics Behavior Humans Physician's Practice Patterns Syndrome Journal Article Review
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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