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

Chromosome 22q11 deletion presenting as the Potter sequence.

1 May 1997

Abstract excerpt

A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome phenotype, but no...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Tissue Engineering and Regenerative Medicine
Share to Urological Disorders and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9152843
DOI: 10.1136/jmg.34.5.423

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chromosome 22q11 deletion presenting as the Potter sequence.PMID 9152843Read ↗

Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation.Semantic proximity Read ↗

New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case ReportSemantic proximity Read ↗

Revisiting the risk for aneuploidy in fetuses with isolated pyelectasisSemantic proximity Read ↗

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.Semantic proximity Read ↗

A case of Potter sequence with WT1 mutation.Semantic proximity Read ↗

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.Semantic proximity Read ↗

Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?Semantic proximity Read ↗

[Potter's sequence. Phenotype, pathogenesis, etiology and hereditary aspects].Semantic proximity Read ↗

"Double trouble" or an amplification of the triploidy phenotype?Semantic proximity Read ↗

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case reportSemantic proximity Read ↗

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndromeSemantic proximity Read ↗

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