Chromosome 6, Monosomy 6q

Last update 01 Nov 2024

Basic Info

Synonyms

6q deletion syndrome, 6q- syndrome, 6号染色体，单体6q

+ [13]

Introduction

Deletion of the long arm of chromosome 6 with delayed mental development and variable multiple abnormalities, mainly microcephaly, orofacial anomalies, short neck, cardiovascular defects, abnormal dermatoglyphics, hand deformities, and other defects.

100 Clinical Results associated with Chromosome 6, Monosomy 6q

100 Translational Medicine associated with Chromosome 6, Monosomy 6q

0 Patents (Medical) associated with Chromosome 6, Monosomy 6q

Literatures (Medical) associated with Chromosome 6, Monosomy 6q

01 Jun 2022·Global Medical Genetics

Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature

Article

Author: DiAdamo, Autumn ; Chai, Hongyan ; Li, Peining ; Xie, Xiaolei ; Zhang, Hui ; Grommisch, Brittany ; Wen, Jiadi

Abstract Background Cytogenomic analyses have been used to detect pathogenic copy number variants. Patients with deletions at 6q26-q27 present variable clinical features. We reported clinical and cytogenomic findings of eight unrelated patients with a deletion of 6q26-q27. A systematic review of the literature found 28 patients with a deletion of 6q26-q27 from 2010 to 2020. Results For these 36 patients, the sex ratio showed equal occurrence between males and females; 29 patients (81%) had a terminal deletion and seven patients (19%) had a proximal or distal interstitial deletion. Of the 22 patients with parental studies, deletions of de novo, maternal, paternal, and bi-parental inheritance accounted for 64, 18, 14, and 4% of patients, respectively. The most common clinical findings were brain abnormalities (100%) in fetuses observed by ultrasonography followed by developmental delay and intellectual disability (81%), brain abnormalities (72%), facial dysmorphism (66%), hypotonia (63%), learning difficulty or language delay (50%), and seizures (47%) in pediatric and adult patients. Anti-epilepsy treatment showed the effect on controlling seizures in these patients. Cytogenomic mapping defined one proximal critical region at 6q26 containing the putative haploinsufficient gene PRKN and one distal critical region at 6q27 containing two haploinsufficient genes DLL1 and TBP. Deletions involving the PRKN gene could associate with early-onset Parkinson disease and autism spectrum disorder; deletions involving the DLL1 gene correlate with the 6q terminal deletion syndrome. Conclusion The genotype–phenotype correlations for putative haploinsufficient genes in deletions of 6q26-q27 provided evidence for precise diagnostic interpretation, genetic counseling, and clinical management of patients with a deletion of 6q26-q27.

01 Jun 2021·Molecular Therapy - Nucleic AcidsQ2 · MEDICINE

Deciphering the mutational signature of congenital limb malformations

Q2 · MEDICINE

ArticleOA

Author: Zhang, Yuanqiang ; Guo, Yang ; Zhang, Terry Jianguo ; Li, Xiaoxin ; Wu, Zhihong ; Yan, Zihui ; Yin, Yuehan ; Zhao, Junhui ; Zhao, Zongxuan ; Tian, Wen ; Wang, Lianlei ; Huang, Yingzhao ; Chen, Zefu ; Zhao, Sen ; Li, Qingyang ; Li, Yaqi ; Zhong, Wenyao ; Dong, Xiying ; Lin, Mao ; Wu, Nan ; Sun, Liying ; Zhang, Nan ; Qiu, Guixing

Congenital limb malformations (CLMs) affect 1 in 500 live births. However, the value of exome sequencing (ES) for CLM is lacking. The purpose of this study was to decipher the mutational signature of CLM on an exome level. We enrolled a cohort of 66 unrelated probands (including 47 families) with CLM requiring surgical correction. ES was performed for all patients and available parental samples. A definite molecular diagnosis was achieved in 21 out of 66 (32%) patients. We identified 19 pathogenic or likely pathogenic single-nucleotide variants and three copy number variants, of which 11 variants were novel. We identified four variants of uncertain significance. Additionally, we identified RPL9 and UBA2 as novel candidate genes for CLM. By comparing the detailed phenotypic features, we expand the phenotypic spectrum of diastrophic dysplasia and chromosome 6q terminal deletion syndrome. We also found that the diagnostic rate was significantly higher in patients with a family history of CLM (p = 0.012) or more than one limb affected (p = 0.034). Our study expands our understanding of the mutational and phenotypic spectrum of CLM and provides novel insights into the genetic basis of these syndromes.

01 Jan 2019·Pediatric NeurosurgeryQ4 · MEDICINE

Unusual Form of Obstructive Hydrocephalus in Association with 6q Terminal Deletion Syndrome: A Case Report and Literature Review

Q4 · MEDICINE

Review

Author: Tsurubuchi, Takao ; Iwamoto, Hirofumi ; Ishikawa, Eiichi ; Matsumura, Akira ; Muroi, Ai ; Sekine, Tomokazu

Introduction: Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with intellectual disabilities and various structural brain abnormalities. We present a case of 6q terminal deletion syndrome with unusual magnetic resonance imaging (MRI) findings in a neonate. Case Presentation: The neonate, who was prenatally diagnosed with dilation of both lateral ventricles, was born at 38 weeks of gestation. MRI demonstrated abnormal membranous structure continuing to the hypertrophic massa intermedia in the third ventricle that had obscured the cerebrospinal fluid pathway, causing hydrocephalus. G-band analysis revealed a terminal deletion of 6q with the karyotype 46, XY, add(6)(q25.3) or del(6)(q26). He underwent ventriculoperitoneal shunt successfully, and his head circumference has been stable. Discussion/Conclusion: 6q terminal deletion impacts the molecular pathway, which is an essential intracellular signaling cascade inducing neurological proliferation, migration, and differentiation during neuronal development. In patients with hydrocephalus in association with hypertrophy of the massa intermedia, this chromosomal abnormality should be taken into consideration. This case may offer an insight into the pathogenesis of hydrocephalus in this rare chromosomal abnormality.

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Chromosome 6, Monosomy 6q

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