Cargando…

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sirisena, Nirmala D., Wijetunge, U. Kalpani S., de Silva, Ramya, Dissanayake, Vajira H. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741698/ https://www.ncbi.nlm.nih.gov/pubmed/23984121 http://dx.doi.org/10.1155/2013/785830

Ejemplares similares

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
por: Paththinige, Chamara Sampath, et al.
Publicado: (2019)

Genetics and genomic medicine in Sri Lanka
por: Sirisena, Nirmala D., et al.
Publicado: (2019)

Strategies for Genomic Medicine Education in Low- and Middle-Income Countries
por: Sirisena, Nirmala D., et al.
Publicado: (2019)

Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search
por: Vrachnis, Nikolaos, et al.
Publicado: (2021)

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
por: Seo, Go Hun, et al.
Publicado: (2016)

Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2018)

Genotype data for single nucleotide polymorphism markers in sporadic breast cancer related genes in a Sri Lankan case–control cohort of postmenopausal women
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2019)

Electrophoretic mobility shift assays implicate XRCC2:rs3218550C>T as a potential low-penetrant susceptibility allele for sporadic breast cancer
por: Sirisena, Nirmala D., et al.
Publicado: (2019)

Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants
por: Paprocka, Justyna, et al.
Publicado: (2021)

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies
por: Di Bartolo, Daniel L, et al.
Publicado: (2012)

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans
por: Paththinige, Chamara S., et al.
Publicado: (2019)

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
por: Hladilkova, Eva, et al.
Publicado: (2015)

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics
por: Lagou, Magdalini, et al.
Publicado: (2014)

Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
por: Sirisena, Nirmala D., et al.
Publicado: (2016)

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer
por: Gunawardena, Kawmadi, et al.
Publicado: (2023)

Breast cancer surveillance in BRCA positive Sri Lankan women: health equity for a high-risk group at a limited resource setting
por: Liyanage, Udari Apsara, et al.
Publicado: (2023)

Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism
por: Bianchin, Giovanni, et al.
Publicado: (2015)

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2018)

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features
por: BERTOK, Sara, et al.
Publicado: (2015)

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
por: Kim, Yoon-Myung, et al.
Publicado: (2016)

A child with mosaicism for deletion (14)(q11.2q13)
por: Gamage, Thilini H., et al.
Publicado: (2012)

Comment on “Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism”
por: Kruyt, Ivo Joachim, et al.
Publicado: (2016)

A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development
por: Wettasinghe, Kalum T., et al.
Publicado: (2012)

The pattern of KRAS mutations in metastatic colorectal cancer: a retrospective audit from Sri Lanka
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2017)

Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
por: Hamano, Tadanori, et al.
Publicado: (2019)

Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities – a Case Report
por: Roa-Bautista, Adriel, et al.
Publicado: (2022)

Genetic determinants of sporadic breast cancer in Sri Lankan women
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2018)

Design and implementation of a novel pharmacogenetic assay for the identification of the CYP2D6*10 genetic variant
por: Ranadeva, Nadeeka Dimuthu Kumari, et al.
Publicado: (2022)

Response to: Comment on “Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism”
por: Bianchin, Giovanni, et al.
Publicado: (2016)

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
por: Paththinige, C. S., et al.
Publicado: (2016)

Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
por: Nair, Sreelata, et al.
Publicado: (2012)

Congenital Cataracts – Facial Dysmorphism – Neuropathy
por: Kalaydjieva, Luba
Publicado: (2006)

MON-250 Chromosomal Microarray Analysis in Patients with Central Precocious Puberty Associated with Dysmorphic Features or Congenital Malformations
por: Valadares, Luciana, et al.
Publicado: (2019)

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features
por: Hu, Jie, et al.
Publicado: (2011)

Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
por: Oliveira, Jakeline Santos, et al.
Publicado: (2020)

Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay
por: Sirisena, Nirmala, et al.
Publicado: (2020)

Diprosopus a Rare Craniofacial Malformation
por: Bhuyan, Mrinal, et al.
Publicado: (2018)

Identification of Novel Insertions and Deletions in Haematopoietic Stem/Progenitor Cells in de novo Myelodysplastic Syndromes
por: Bandara, Manoj, et al.
Publicado: (2021)

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
por: Subasinghe, Chandrika Jayakanthi, et al.
Publicado: (2017)

A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
por: Vickers, Ramiah R, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4emsol4opisuio37l9j62a2rdh