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

11q- syndrome: three cases and a review of the literature.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1999

Leegte B, Kerstjens-Frederikse W S, Deelstra K, Begeer J H, van Essen A J

Abstract excerpt

We report on three children with de novo terminal deletions of the long arm of chromosome 11 (11q-) and breakpoints in 11q23-q24. Eighty-nine other patients with partial monosomy 11q have been reported and were reviewed by us. Salient features of 11q- syndrome are psychomotor retardation, trigonocephaly, telecanthus/hypertelorism, broad depressed nasal bridge, micrognathia, low set abnormal ears, cardiac...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 11

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

Share to Phenotype

Share to Syndrome

Source

Identifiers

PMID: 10546104

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

11q- syndrome: three cases and a review of the literature.PMID 10546104Read ↗

Two craniosynostotic patients with 11q deletions, and review of 48 cases.Semantic proximity Read ↗

Monosomy 11Q: report of new phenotypic manifestations.Semantic proximity Read ↗

Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings.Semantic proximity Read ↗

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.Semantic proximity Read ↗

Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes.Semantic proximity Read ↗

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.Semantic proximity Read ↗

Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity.Semantic proximity Read ↗

De novo interstitial deletion in the long arm of chromosome 11: a case report.Semantic proximity Read ↗

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.Semantic proximity Read ↗

Genomic analysis of partial 21q monosomies with variable phenotypes.Semantic proximity Read ↗

Partial monosomy of distal 10q: three new cases and a review.Semantic proximity Read ↗

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patientsSemantic proximity Read ↗

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