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22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Cytogenetic and genome research, 2015-01, Vol.146 (2), p.89-99

Burnside, Rachel D.

2015

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Human genetics, 2011-10, Vol.130 (4), p.517-528

2011

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Are all chromosome microarrays the same? What clinicians need to know

Prenatal diagnosis, 2019-02, Vol.39 (3), p.157-164

2019

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UPD detection using homozygosity profiling with a SNP genotyping microarray

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.757-768

2011

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Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

Genetics in medicine, 2016-06, Vol.18 (6), p.635-642

2016

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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1956-1963

2018

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Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions

Cancer genetics, 2019-02, Vol.231-232, p.1-13

2019

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Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2664-2673

2015

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The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Genetics in medicine, 2014-01, Vol.16 (1), p.92-100

2014

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Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes

Cytogenetic and genome research, 2016-01, Vol.150 (1), p.46-51

2016

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Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya

Pediatrics (Evanston), 2013-06, Vol.131 (6), p.e1996

2013

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Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1755-1758

2013

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Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.695-700

2015

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Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.822-828

2013

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Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood

European journal of medical genetics, 2014-05, Vol.57 (6), p.264-266

2014

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Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

Cancer genetics, 2016-05, Vol.209 (5), p.233-234

2016

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A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1221-1224

2008

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Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1516-1522

2009

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Abstract 2227: Streamlined workflow for analyzing and reporting hematological malignancies in Bionano VIATM software

Cancer research (Chicago, Ill.), 2023-04, Vol.83 (7_Supplement), p.2227-2227

2023

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13 - Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

Cancer genetics, 2016-05, Vol.209 (5), p.233-234

2016

Volltextzugriff (PDF)

Molecular Cytogenetic Characterization of Two Cases with Constitutional Distal 11q Duplication/ riplication

American journal of medical genetics. Part A, 2009, Vol.149 (7), p.1516-1522

2009

Volltextzugriff (PDF)

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

American Journal of Medical Genetics Part A, 2013, Vol.161A (4), p.822-828

2013

Volltextzugriff (PDF)

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

American Journal of Medical Genetics Part A, 2009, Vol.149A (7), p.1516-1522

2009

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3.107 Caregiver and Adolescent Perspectives on “Open Notes” in Pediatric Psychiatry

Journal of the American Academy of Child and Adolescent Psychiatry, 2022-10, Vol.61 (10), p.S262-S263

2022

Volltextzugriff (PDF)

Identification and inclusion of gender factors in retrospective cohort studies: the GOING-FWD framework

BMJ global health, 2021-04, Vol.6 (4), p.e005413

2021

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22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Are all chromosome microarrays the same? What clinicians need to know

UPD detection using homozygosity profiling with a SNP genotyping microarray

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes

Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood

Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

Abstract 2227: Streamlined workflow for analyzing and reporting hematological malignancies in Bionano VIATM software

13 - Incidental Findings Found in Whole Genome SNP Microarray Analysis in Both Prenatal and Oncology Studies

Molecular Cytogenetic Characterization of Two Cases with Constitutional Distal 11q Duplication/ riplication

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

3.107 Caregiver and Adolescent Perspectives on “Open Notes” in Pediatric Psychiatry

Identification and inclusion of gender factors in retrospective cohort studies: the GOING-FWD framework

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