6q25.1-q25.3 Microdeletion in a Chinese Girl

Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, we reported a 3-year-old girl evaluated for facial dysmorphism (long and connected eyebrows, big mouth, wide nasal bridge, high palatine arch, low set...

Full description

Bibliographic Details
Published in:	JCRPE
Main Authors:	Mian-Ling Zhong, Ye-Mei Song, Chao-Chun Zou
Format:	Article
Language:	English
Published:	Pediatric Endocrinology and Diabetes Society 2021-03-01
Subjects:	6q25 microdeletion facial dysmorphism growth retardation intellectual disability language delay
Online Access:	http://www.jcrpe.org/archives/archive-detail/article-preview/6q251-q253-microdeletion-in-a-chinese-girl/38395

Similar Items

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report
by: Estephania Candelo, et al.
Published: (2024-10-01)

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
by: Ruta Kalinauskiene, et al.
Published: (2023-06-01)

A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31
by: Hale Onder Yilmaz, et al.
Published: (2020-12-01)

Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients
by: Jianlong Zhuang, et al.
Published: (2024-04-01)

A de novo microdeletion 2p24.3-25.1 identified in a girl with global development delay
by: Hristo Y. Ivanov, et al.
Published: (2015-10-01)

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
by: Jianlong Zhuang, et al.
Published: (2023-01-01)

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region
by: Esra Tuğ, et al.
Published: (2018-02-01)

Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return
by: Chih-Ping Chen, et al.
Published: (2025-03-01)

A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis
by: Can Aydın, et al.
Published: (2022-06-01)

3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report
by: Duygu Kaba, et al.
Published: (2022-10-01)

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review
by: Liqing Jiang, et al.
Published: (2025-07-01)

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature
by: Chunjing Wang, et al.
Published: (2018-10-01)

Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series
by: Chun-Xiang Zhou, et al.
Published: (2021-03-01)

An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis
by: Antonio Palazón-Bru, et al.
Published: (2016-02-01)

Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
by: Ying Dai, et al.
Published: (2020-08-01)

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
by: Lauren Brady, et al.
Published: (2023-03-01)

Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound
by: Chih-Ping Chen, et al.
Published: (2020-09-01)

Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
by: Țuțulan-Cuniță A, et al.
Published: (2022-06-01)

Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension
by: Yating Wang, et al.
Published: (2025-04-01)

A Rare De Novo Robertsonian Translocation t(21q; 21q) in an Iranian Child With Down Syndrome: A Case Report
by: Ali Nikfar, et al.
Published: (2020-02-01)

Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion
by: Chih-Ping Chen, et al.
Published: (2024-01-01)

A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia
by: Xinpeng Guo, et al.
Published: (2025-07-01)

Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review
by: Lu Qin, et al.
Published: (2022-09-01)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
by: Nan Guo, et al.
Published: (2023-08-01)

Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report
by: Wen-cheng Dai, et al.
Published: (2021-09-01)

Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects
by: Chih-Ping Chen, et al.
Published: (2021-03-01)

Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family
by: Chih-Ping Chen, et al.
Published: (2025-03-01)

Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1–q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality
by: Chih-Ping Chen, et al.
Published: (2017-04-01)

Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series
by: Ziyang Liu, et al.
Published: (2025-09-01)

Do microdeletions lead to immune deficiency?
by: Sait Karaman, et al.
Published: (2020-04-01)

Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study
by: Meiying Cai, et al.
Published: (2024-01-01)

Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature
by: Lei Liu, et al.
Published: (2024-08-01)

Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort
by: Ioana Streață, et al.
Published: (2022-12-01)

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus
by: Guoqiang Li, et al.
Published: (2024-07-01)

Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2–q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome
by: Chih-Ping Chen, et al.
Published: (2014-12-01)

A comprehensive list of human microdeletion and microduplication syndromes
by: Alyssa S. Wetzel, et al.
Published: (2022-11-01)

Analysis of Y Chromosome Microdeletion in Indonesian Males
by: Dwi Anita Suryandari, et al.
Published: (2010-10-01)

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family
by: Chih-Ping Chen, et al.
Published: (2013-12-01)

Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot
by: Chih-Ping Chen, et al.
Published: (2016-04-01)

Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion
by: Marijana Rakonjac, et al.
Published: (2024-04-01)