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

Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

American journal of medical genetics. Part A - 1 Jun 2010

Papadopoulou Eleftheria, Sismani Carolina, Christodoulou Christodoulos, Ioannides Marios, Kalmanti Maria, Patsalis Philippos

Abstract excerpt

We report on a 2-year-old boy with intellectual disabilities, distinctive facies, hypotonia, cardiac, and renal malformations. During his infancy he had recurrent episodes of apnea, cyanosis, and bradycardia. Chromosomal analysis showed a de novo apparently balanced translocation 46,XY,t(9;15)(q31;q26)dn. The use of array-comparative genomic hybridization (CGH) however, revealed the presence of additional cryptic...

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

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

Share to Chromosomes, Human, Pair 15

Share to Chromosomes, Human, Pair 9

Share to Comparative Genomic Hybridization

Share to Facies

Share to Psychomotor Disorders

Share to Translocation, Genetic

Source

Identifiers

PMID: 20503328
DOI: 10.1002/ajmg.a.33302

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

Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.PMID 20503328Read ↗

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.Semantic proximity Read ↗

De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations.Semantic proximity Read ↗

Clinical and molecular characterization of a patient with 15q21.2q22.2 deletion syndrome.Semantic proximity Read ↗

Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.Semantic proximity Read ↗

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).Semantic proximity Read ↗

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.Semantic proximity Read ↗

Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.Semantic proximity Read ↗

Chromosome 15q24 microdeletion syndromeSemantic proximity Read ↗

15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.Semantic proximity Read ↗

15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature ReviewSemantic proximity Read ↗

Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangementsSemantic proximity Read ↗

Interstitial 15q deletion without a classic Prader-Willi phenotype.Semantic proximity Read ↗

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