Evidence map›Paper›PMID 40746770›Full record

ArticleClinical case reports2025

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.

Yazeed Alayed, Aziza Mushiba, Soha Tashkandi, Yahya Almashham, Khelad Alsaidi, Abdulrazaq Albohigan, Amer Jamhawi, Mohammad Alkheilewi, Maryam Alotaibi

Abstract read
In one paragraph

Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Yazeed AlayedDepartment of Pediatric, Main Children Hospital King Fahad Medical City Riyadh Kingdom of Saudi Arabia.ORCID https://orcid.org/0000-0002-4512-1100
Aziza MushibaDepartment of Pediatric Metabolic and Genetics, Main Children Hospital King Fahad Medical City Riyadh Kingdom of Saudi Arabia.
Soha TashkandiCytogenetics Laboratory, Clinical Pathology, PCLMA King Fahad Medical City Riyadh Kingdom of Saudi Arabia.
Yahya AlmashhamDepartment of Pediatric Cardiology, Main Children Hospital King Fahad Medical City Riyadh Kingdom of Saudi Arabia.
Khelad AlsaidiCytogenetics Laboratory, Clinical Pathology, PCLMA King Fahad Medical City Riyadh Kingdom of Saudi Arabia.
Abdulrazaq AlbohiganCytogenetics Laboratory, Clinical Pathology, PCLMA King Fahad Medical City Riyadh Kingdom of Saudi Arabia.
Amer JamhawiEurofins Clinical Riyadh Kingdom of Saudi Arabia.
Mohammad AlkheilewiEurofins Clinical Riyadh Kingdom of Saudi Arabia.
Maryam AlotaibiDepartment of Pediatric Metabolic and Genetics, Main Children Hospital King Fahad Medical City Riyadh Kingdom of Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Small supernumerary marker chromosomes (sSMC) constitute a rare group of structural chromosomal abnormalities characterized by additional genetic material that cannot be identified by conventional banding cytogenetics. The incidence of sSMC is extremely rare, and most are expected to have no clinical phenotypic abnormalities. Advanced cytogenetic modalities are crucial for sSMCs identification, characterization, and analysis of chromosomal structure. An 8-day-old neonate born to a G2P2 mother with gestational diabetes and a history of infertility was admitted for respiratory distress. Clinical evaluations included chromosomal microarray, karyotyping, fluorescence in situ hybridization (FISH), brain magnetic resonance imaging (MRI), and cardiac computed tomography (CT). Initial echocardiography revealed atrial and ventricular septal defects, patent ductus arteriosus, and left pulmonary artery stenosis. Brain MRI showed trigonocephaly, ventriculomegaly, corpus callosum dysgenesis, and gray matter heterotopia. Chromosomal microarray identified proximal duplication of 15q and duplication of 2p. Despite intensive care and surgical interventions, the infant faced recurrent respiratory complications and failed extubation attempts. SMC involving chromosomes 15 and 2 presenting with multiple congenital anomalies delineate the genotype-phenotype correlation roadmap. Rapid and immense development in cytogenetics may expand further correlation strategies in the future.

Indexed as

chromosomal microarraycongenital anomaliesduplication 15qduplication 2pneonatesupernumerary marker chromosomes

Identifiers

PMID40746770
PMCPMC12311227

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.