Cargando…

A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disabili...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tkemaladze, Tinatin, Bregvadze, Kakha, Papiashvili, Nikoloz, Gagua, Sopio, Abzianidze, Elene
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031590/ https://www.ncbi.nlm.nih.gov/pubmed/36968988 http://dx.doi.org/10.1177/2050313X231160883

Ejemplares similares

A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report
por: Tinatin, Tkemaladze, et al.
Publicado: (2023)

First case report of Nager syndrome patient from Georgia
por: Tkemaladze, Tinatin, et al.
Publicado: (2022)

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
por: Tkemaladze, Tinatin, et al.
Publicado: (2022)

Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
por: Tkemaladze, Tinatin, et al.
Publicado: (2023)

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay
por: Tidwell, Timothy, et al.
Publicado: (2020)

DNA methylation status of interspersed repetitive sequences in patients with migraine
por: Kraveishvili, Nino, et al.
Publicado: (2023)

A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
por: Yuan, Haiming, et al.
Publicado: (2016)

Pituitary Stalk Duplication: A Radiological Surprise in a Child With Short Stature
por: Sravya, Surapaneni Lakshmi, et al.
Publicado: (2023)

Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature
por: Strauss, Allison M., et al.
Publicado: (2022)

Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
por: Tayeh, Marwan K, et al.
Publicado: (2015)

SAT-055 A De Novo 1p13.2 Deletion Related to Short Stature, Hypothyroidism and Mild Developmental Delay
por: Vlachopapadopoulou, Elpis Athina, et al.
Publicado: (2020)

Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
por: Wallerstein, Violet, et al.
Publicado: (2022)

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis
por: Schwaibold, Eva Maria Christina, et al.
Publicado: (2014)

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
por: Stevens, Servi J. C., et al.
Publicado: (2016)

SAT-285 Role of Chromosome Microarray in Identifying a Genetic Cause of Undervirilized External Genitalia and Growth Delay in an Infant: 6p Duplication Associated with Short Stature and Micropenis
por: Paulo, Remberto, et al.
Publicado: (2019)

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
por: Xie, Bobo, et al.
Publicado: (2016)

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
por: Lalani, Seema R, et al.
Publicado: (2006)

Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms in Georgian Females with Hypothyroidism
por: Kvaratskhelia, Tamar, et al.
Publicado: (2020)

Chromosome abnormalities in Indonesian patients with short stature
por: Paramayuda, Chrysantine, et al.
Publicado: (2012)

Neuroendocrine pancreatic tumor in a patient with dual diagnosis of tuberous sclerosis complex and basement membrane disease: A case report and review of the literature
por: Kopadze, Saba, et al.
Publicado: (2021)

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
por: Wayhelova, Marketa, et al.
Publicado: (2019)

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
por: Park, Soyoung, et al.
Publicado: (2020)

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders
por: Sjaarda, Calvin P., et al.
Publicado: (2020)

De novo mutations in PURA are associated with hypotonia and developmental delay
por: Tanaka, Akemi J., et al.
Publicado: (2015)

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
por: Ramirez, J. M., 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)

IL-10 Polymorphism and Breast Cancer Risk in Georgian Women: A Case–Control Study
por: Ahmadi, Saba, et al.
Publicado: (2023)

A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
por: Scheffer-Rath, Mirjam E.A., et al.
Publicado: (2023)

Stature–weight growth delays: Clinical and etiological aspects
por: Salhi, Houda, et al.
Publicado: (2018)

The prevalence of different types of occlusal relationships based on the type of terminal plane in primary dentition: a study among 3- to 6-year old children in Tbilisi, Georgia
por: Golovachova, Elene, et al.
Publicado: (2022)

Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome
por: Silvestre, Catarina, et al.
Publicado: (2019)

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
por: Young, Cameron, et al.
Publicado: (2022)

5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy
por: Iourov, Ivan Y., et al.
Publicado: (2015)

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
por: Azad, Abul Kalam, et al.
Publicado: (2020)

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies
por: Khattak, Shahzaib, et al.
Publicado: (2020)

Generational differences in current sexual behavior among Georgian reproductive-aged women
por: Abzianidze, Tinatin, et al.
Publicado: (2019)

A child with dendritiform eye lesions and developmental delay
por: Gliagias, Vasiliki, et al.
Publicado: (2022)

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria
por: Thulasirajah, Salini, et al.
Publicado: (2022)

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature
por: Sandoval, Gloria Tatiana Vinasco, et al.
Publicado: (2014)

Growth hormone treatment for short stature associated with duplication of the NSD1 Sotos syndrome gene
por: Bernhardt, Isaac T, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_mtg9m04v46oj6in42fc37qn7ia