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

Distal 5q deletion syndrome: phenotypic correlations.

American journal of medical genetics - 15 Sept 2001

Schafer I A, Robin N H, Posch J J, Clark B A, Izumo S, Schwartz S

Abstract excerpt

We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventricular (VSD) septal defects, camptodactyly 4th and 5th fingers, and developmental delay. The other sib showed...

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 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Microcephaly

Source

Identifiers

PMID: 11562936
DOI: 10.1002/ajmg.1513

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 · 12 closest

Distal 5q deletion syndrome: phenotypic correlations.PMID 11562936Read ↗

5p deletions: Current knowledge and future directions.Semantic proximity Read ↗

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.Semantic proximity Read ↗

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.Semantic proximity Read ↗

Chromosome 5q33 deletions associated with congenital heart defects.Semantic proximity Read ↗

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.Semantic proximity Read ↗

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.Semantic proximity Read ↗

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.Semantic proximity Read ↗

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomaliesSemantic proximity Read ↗

Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.Semantic proximity Read ↗

40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.Semantic proximity Read ↗

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.Semantic proximity Read ↗

Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.Semantic proximity Read ↗

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