Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Shu Heng, Ye Tongsheng, Liu Guanghui, Dai Liying, Zha Ping, Li Xianhong, Zhao Yuwei, Zhu Xiaoshan, Zheng Hong

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS). METHODS: Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed. RESULTS: On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Testing

Share to Infant, Newborn

Share to Intellectual Disability

Share to Phenotype

Share to Smith-Magenis Syndrome

Source

Identifiers

PMID: 35446977
DOI: 10.3760/cma.j.cn511374-20210122-00065

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical characteristics and genetic analysis of a neonate with Smith-Magenis syndrome].PMID 35446977Read ↗

A case report of monozygotic twins with Smith-Magenis syndrome.Semantic proximity Read ↗

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.Semantic proximity Read ↗

Phenotype and natural history in Marshall-Smith syndrome.Semantic proximity Read ↗

First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.Semantic proximity Read ↗

Stromme Syndrome Presenting with classic Microcephaly and Apple-Peel Intestinal Atresia in a Neonate: A Genetically Confirmed Case ReportSemantic proximity Read ↗

Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.Semantic proximity Read ↗

[Autosomal dominant intellectual disability type 21 in a neonate].Semantic proximity Read ↗

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findingsSemantic proximity Read ↗

Heterozygous Deletion of 10q24.31-q24.33: A New Syndrome Associated with Multiple Congenital AnomaliesSemantic proximity Read ↗

Rare-ID: The First Neonate Diagnostic Approach Using Genome Sequencing for Complex Pediatric Cases in a Greek CohortSemantic proximity Read ↗

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.Semantic proximity Read ↗

[Smith-Magenis syndrome: case report and review].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.