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

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

American journal of medical genetics. Part A - 1 Jun 2011

Sellars Elizabeth A, Zimmerman Sarah L, Smolarek Teresa, Hopkin Robert J

Abstract excerpt

We report on an infant with tetrasomy of 5q35.2-5q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter-McAlpine syndrome including intrauterine growth retardation (IUGR), almond-shaped eyes, epicanthal folds, and downturned mouth with thin vermillion of the upper lip. In addition, left ventricular noncompaction and absent thumbs were...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniosynostoses

Share to Growth Disorders

Share to Heart Ventricles

Share to Intellectual Disability

Share to Microarray Analysis

Source

Identifiers

PMID: 21567924
DOI: 10.1002/ajmg.a.33997

Genes

MSX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?PMID 21567924Read ↗

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.Semantic proximity Read ↗

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.Semantic proximity Read ↗

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.Semantic proximity Read ↗

Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?Semantic proximity Read ↗

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.Semantic proximity Read ↗

Fanconi's anaemia and unilateral thumb polydactyly--don't miss it.Semantic proximity Read ↗

Feingold syndrome: Clinical review and genetic mappingSemantic proximity Read ↗

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

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.Semantic proximity Read ↗

Obstetric US: Watch the Fetal HandsSemantic proximity Read ↗

Biallelic truncating variants in VGLL2 cause syngnathia in humans.Semantic proximity Read ↗

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