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

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

American journal of medical genetics. Part A - 1 Feb 2026

Zhang Jingyi, Chen Xia, Chen Ming, Wu Shiyuan, Huang Fang, Pan Rui, Chen Gaoyan

Abstract excerpt

Mulchandani-Bhoj-Conlin syndrome is an extremely rare imprinting disorder caused by maternal uniparental disomy of chromosome 20, primarily characterized by intrauterine growth restriction, severe postnatal growth failure, and feeding difficulties. Here, we report a neonate diagnosed with Mulchandani-Bhoj-Conlin syndrome via whole exome sequencing and copy number variation analysis, which also identified a...

Topics

Join the communities discussing this publication.

Abnormalities, Multiple
DNA Copy Number Variations
Exome Sequencing
Fetal Growth Retardation
Fingers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genomic Imprinting

Source

Identifiers

PMID: 40964751
DOI: 10.1002/ajmg.a.64261

Genes

TRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.PMID 40964751Read ↗

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.Semantic proximity Read ↗

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.Semantic proximity Read ↗

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.Semantic proximity Read ↗

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.Semantic proximity Read ↗

Trichorhinophalangeal syndrome type II presenting with short stature in a child.Semantic proximity Read ↗

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.Semantic proximity Read ↗

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.Semantic proximity Read ↗

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.Semantic proximity Read ↗

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.Semantic proximity Read ↗

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.Semantic proximity Read ↗

CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.Semantic proximity Read ↗

Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.Semantic proximity Read ↗

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