Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

Jincheng Dai, Jun Zeng, Hongxi Tan, Xiangsheng Cai, Benqing Wu

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Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors at 3 institutions in 1 country.

Jincheng Dai *Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.

Jun Zeng *Center for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China.

Hongxi TanCenter for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China.

Xiangsheng CaiCenter for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China. xiangshengcai@yeah.net.ORCID 0000-0002-6353-8188

Benqing WuDepartment of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China. wubenqing783@126.com.

Jinan University · CNUniversity of Chinese Academy of Sciences · CNShenzhen Pingle Orthopedic Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. CASE PRESENTATION: This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype.

conclusionThis patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.

Indexed as

Chromosome DisordersKallmann SyndromeSpherocytosis, HereditaryChromosome DeletionChromosomes, Human, Pair 22Humans8p11.22-p21.2Case reportChromosome deletionFGFR1Kallmann syndrome

Identifiers

PMID35668409

DOI10.1186/s12920-022-01274-0

PMCPMC9169259

OpenAlexW4281682621

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