Cargando…

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

BACKGROUND: Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication...

Descripción completa

Detalles Bibliográficos
Autores principales:	Busè, Martina, Cuttaia, Helenia C., Palazzo, Daniela, Mazara, Marcella V., Lauricella, Salvatrice A., Malacarne, Michela, Pierluigi, Mauro, Cavani, Simona, Piccione, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518118/ https://www.ncbi.nlm.nih.gov/pubmed/28724436 http://dx.doi.org/10.1186/s13052-017-0380-x

Ejemplares similares

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1
por: Pang, Hui, et al.
Publicado: (2020)

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
por: Mercadante, Francesca, et al.
Publicado: (2020)

Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome
por: Chapman, Gareth, et al.
Publicado: (2021)

1q21.1 Duplication syndrome and epilepsy: Case report and review
por: Gourari, Ioulia, et al.
Publicado: (2018)

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies
por: Ji, Xiuqing, et al.
Publicado: (2018)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
por: Hannes, F D, et al.
Publicado: (2009)

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome
por: Alzarka, Bakri, et al.
Publicado: (2018)

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes
por: Arbogast, Thomas, et al.
Publicado: (2016)

M155. RECIPROCAL CHANGES IN WHITE MATTER MICROSTRUCTURE IN 22Q11.2 DELETION AND DUPLICATION SYNDROME
por: Seitz, Johanna, et al.
Publicado: (2020)

AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance
por: Nagy, Stanislav, et al.
Publicado: (2018)

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction
por: Obara, Koji, et al.
Publicado: (2023)

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
por: Brodie, Seth A., et al.
Publicado: (2019)

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
por: Poeta, Loredana, et al.
Publicado: (2022)

DNA2.1.1 - Collaboration Programs
Publicado: (Dece)

The psychiatric phenotypes of 1q21 distal deletion and duplication
por: Linden, Stefanie C., et al.
Publicado: (2021)

Expanding the clinical phenotype of FGFR1 internal tandem duplication
por: Kautto, Esko A., et al.
Publicado: (2022)

Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
por: Brodie, Seth A., et al.
Publicado: (2020)

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
por: Lee, Cha Gon, et al.
Publicado: (2012)

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
por: Marcato, Livia, et al.
Publicado: (2014)

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
por: Soemedi, Rachel, et al.
Publicado: (2012)

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited
por: Jin, Chunyan, et al.
Publicado: (2021)

A Family Harboring CMT1A Duplication and HNPP Deletion
por: Lee, Jung Hwa, et al.
Publicado: (2007)

Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication
por: Linden, Stefanie C., et al.
Publicado: (2021)

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
por: Ibrahim, Masitah, et al.
Publicado: (2017)

A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review
por: Almuzzaini, Bader, et al.
Publicado: (2020)

Properties of $^{211}_{85}$At$_{126}$ as observed in the decay of $^{211}$Rn
por: Astner, G
Publicado: (1972)

Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
por: Mezaki, Naomi, et al.
Publicado: (2018)

Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
por: Sukalo, Maja, et al.
Publicado: (2017)

Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1
por: Burn, Sabrina C., et al.
Publicado: (2018)

Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?
por: Pelizzo, Gloria, et al.
Publicado: (2018)

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
por: Recalcati, Maria Paola, et al.
Publicado: (2022)

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
por: Elfferich, Peter, et al.
Publicado: (2011)

Children and adults affected by Cri du Chat syndrome: Care's recommendations
por: Liverani, Maria Elena, et al.
Publicado: (2019)

Understanding the impact of 1q21.1 copy number variant
por: Harvard, Chansonette, et al.
Publicado: (2011)

Human dosimetry of free (211)At and meta-[(211)At]astatobenzylguanidine ((211)At-MABG) estimated using preclinical biodistribution from normal mice
por: Ukon, Naoyuki, et al.
Publicado: (2020)

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
por: Iossa, Sandra, et al.
Publicado: (2015)

21.1 STRESS AND COGNITION IN YOUTH AT CLINICAL RISK FOR PSYCHOSIS
por: Walker, Elaine
Publicado: (2018)

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
por: Hu, Xuyun, et al.
Publicado: (2019)

Sorting by reversals, block interchanges, tandem duplications, and deletions
por: Bader, Martin
Publicado: (2009)

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability
por: Mayo, Sonia, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_7l5qm0g19blf1vht9gov1bkkdq