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

Another patient with a deletion 14q11.2q13.

Annales de genetique - 1 Jan 1996

Govaerts L, Toorman J, Blij-Philipsen M V, Smeets D

Abstract excerpt

We report another case of a de novo interstitial del (14) (q11.2q13). The patient's karyotype was 46,XY,del(14) (q11.2q13) [62]/46,XY [1]. In situ hybridization excluded any additional abnormalities such as a translocation or insertion. The phenotype of our patient is compared with those previously published. Comparison of the chromosome 14 short arm polymorphisms of the patient and his parents indicated that the...

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 14
Share to In Situ Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Karyotyping

Share to Mosaicism

Share to Phenotype

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 9037346

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.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Another patient with a deletion 14q11.2q13.PMID 9037346Read ↗

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 ↗

De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?Semantic proximity Read ↗

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.Semantic proximity Read ↗

A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.Semantic proximity Read ↗

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.Semantic proximity Read ↗

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.Semantic proximity Read ↗

Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region.Semantic proximity Read ↗

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of casesSemantic proximity Read ↗

A case of segmental paternal isodisomy of chromosome 14.Semantic proximity Read ↗

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.Semantic proximity Read ↗

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