Chromosome 4, Trisomy 4q

Last update 01 Nov 2024

Basic Info

Synonyms

4q duplication syndrome, 4q syndrome, 4q+ syndrome

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Introduction

Duplication of the long arm of chromosome 4 with delayed development, craniofacial abnormalities, limb defects, and variable neurological, ophthalmological, urogenital and other anomalies.

100 Clinical Results associated with Chromosome 4, Trisomy 4q

100 Translational Medicine associated with Chromosome 4, Trisomy 4q

0 Patents (Medical) associated with Chromosome 4, Trisomy 4q

Literatures (Medical) associated with Chromosome 4, Trisomy 4q

01 Apr 2024·Ophthalmic Surgery, Lasers and Imaging Retina

Unilateral Retinopathy in a Preterm Infant With 4q Duplication: Description and Management

Article

Author: Brant, Arthur ; Meyer, Carlotta ; Moshfeghi, Darius M

A 33-5/7, 1570 g dichorionic diamniotic twin presented with cryptorchidism, failed hearing examination (both ears), poor feeding, profound hypoglycemia, coagulopathy, conjugated hyper-bilirubinemia, hydronephrosis, and hypotension. Microarray sent with results of whole genome SNP microgray analysis detected an interstitial duplication of the chromosomal segment 4q35 1q35.2. On this basis, telemedicine screening was performed to evaluate for ocular abnormalities in association with abnormal gene testing. Unilateral advanced retinopathy was noted affecting the right eye, with mature vascularization in the left eye. This infant was managed in concordance with retinopathy of prematurity guidelines, despite not making screening criteria. Off-label intravitreal bevacizumab injection (0.625 mg in 0.025 mL) resulted in full vascular maturation assessed by fluorescein angiography 6 months later. This represents the first description and management of retinopathy in 4q duplication syndrome. [ Ophthalmic Surg Lasers Imaging Retina 2024;55:228–230.]

10 Dec 2021·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Genetic analysis of a pedigree with atypical partial 4q trisomy].

Article

Author: Xiao, Hai ; Liao, Shixiu ; Yan, Fan ; Wu, Dong ; Gao, Yue ; Zhang, Qian ; Wang, Fengyang ; Zhang, Xiulei ; Zhang, Mengting ; Zhang, Xiaomei ; Li, Xinrui

OBJECTIVETo explore the genetic basis for a Chinese pedigree affected with mental retardation.METHODSG-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.RESULTSThe patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.CONCLUSIONThe duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.

01 Dec 2021·Molecular CytogeneticsQ4 · BIOLOGY

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

Q4 · BIOLOGY

ArticleOA

Author: Zeng, Shuhong ; Zhuang, Jianlong ; Zhang, Na ; Fu, Wanyu ; Jiang, Yuying ; Li, Yanqing ; Wang, Yuanbai ; Xie, Yingjun ; Yao, Jianfeng

AbstractAimsThere is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation between the genotype and the phenotype.MethodsTwo pedigrees with distal 4q duplication were enrolled in this study. Karyotype analysis and single-nucleotide polymorphism (SNP) array detection were performed for prenatal diagnosis. Fluorescence in situ hybridization analysis. (FISH) was conducted to verify the copy number variants.ResultsTwo families with partial trisomy 4q were identified. The fetus in pedigree 1 exhibited multiple ultrasound anomalies including intrauterine growth restriction and an atrioventricular septal defect who had a duplication of 4q28.3-qter associate with 6p25.2-p25.3 deletion, which resulted from balanced translocation carried by his father t(4;6)(q28.3;p25.2). The fetus in pedigree 2 had a distal 4q28.3-qter duplication combined with monosomy of Xp21.3-p22.3, and the karyotype was described as 46,X,der(X)t(X;4)(p21.3;q28.3)mat, which originally inherited from the pregnant woman who exhibited a mild clinical phenotype limited to short stature.ConclusionsIn our study, we for the first time identified the partial trisomy 4q associate with 6p or Xp deletion. In addition, our finding further strengthens that mild clinical phenotype in 4q duplication case may be due to the spreading of X inactivation to the autosomal in derivation of chromosome X.

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Chromosome 4, Trisomy 4q

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