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

Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1996

Frints S G, Moerman P, Fryns J P

Abstract excerpt

We report a female fetus with partial 7q monosomy and partial 8p trisomy, as the unbalanced product of a familial balanced reciprocal translocation; rcp t(7;8)(134:p12)mat. Among pregnancies from translocation carriers in this family, there has been a high incidence of first trimester miscarriages. Three unbalanced offsprings with a partial 7q monosomy and partial 8p trisomy were diagnosed after prenatal...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 7
Share to Fetal Diseases

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

Share to Karyotyping

Share to Monosomy

Share to Pedigree

Share to Phenotype

Share to Translocation, Genetic

Share to Trisomy

Source

Identifiers

PMID: 8985736

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

Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation.PMID 8985736Read ↗

Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.Semantic proximity Read ↗

Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation.Semantic proximity Read ↗

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.Semantic proximity Read ↗

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.Semantic proximity Read ↗

A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion.Semantic proximity Read ↗

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).Semantic proximity Read ↗

A New Case of Pure Partial 7q DuplicationSemantic proximity Read ↗

De novo direct duplication 7p (p11.2-->pter) in an Arab child with MCA/MR syndrome: trisomy 7p a delineated syndrome?Semantic proximity Read ↗

Silver–Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13)Semantic proximity Read ↗

Case report: denovo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis.Semantic proximity Read ↗

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.Semantic proximity Read ↗

Familial translocation 5;14 resulting in an unbalanced offspring.Semantic proximity Read ↗

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