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

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

European journal of medical genetics - 1 Jan 2000

Chaabouni M, Martinovic J, Sanlaville D, Attié-Bittach T, Caillat S, Turleau C, Vekemans M, Morichon N

Abstract excerpt

We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intrauterine growth retardation, dysmorphic features and limbs abnormalities. Using fluorescent in...

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 Banding

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

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 1

Share to Fetal Growth Retardation

Share to In Situ Hybridization, Fluorescence

Share to Limb Deformities, Congenital

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 17142120
DOI: 10.1016/j.ejmg.2006.03.004

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

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.PMID 17142120Read ↗

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region.Semantic proximity Read ↗

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.Semantic proximity Read ↗

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.Semantic proximity Read ↗

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.Semantic proximity Read ↗

Interstitial 1q42-q44 deletion defined by FISH in a short-lived female.Semantic proximity Read ↗

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literatureSemantic proximity Read ↗

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.Semantic proximity Read ↗

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counselingSemantic proximity Read ↗

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.Semantic proximity Read ↗

Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.Semantic proximity Read ↗

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.Semantic proximity Read ↗

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.Semantic proximity Read ↗

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