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 of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).

Prenatal diagnosis - 1 Jul 1997

Chen C P, Lin C C, Chuang C Y, Lee C C, Chen W L, Jan S W, Lin S P

Abstract excerpt

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation due to advanced maternal age revealed an unusual karyotype of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 12
Share to Down Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Karyotyping

Share to Phenotype

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Translocation, Genetic

Share to Trisomy

Source

Identifiers

PMID: 9249870
DOI: 10.1002/(sici)1097-0223(199707)17:7<675::aid-pd114>3.0.co;2-0

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

Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).PMID 9249870Read ↗

[Phenotypic disorders in balanced reciprocal translocation: karyotype 46,XY,rcp(13; 21)(q22; q22)].Semantic proximity Read ↗

Inherited 14q duplication and 21q deletion: A rare adjacent‐2 segregation in multiple family membersSemantic proximity Read ↗

Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).Semantic proximity Read ↗

Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21.Semantic proximity Read ↗

Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell lineSemantic proximity Read ↗

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.Semantic proximity Read ↗

Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.Semantic proximity Read ↗

Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.Semantic proximity Read ↗

Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.Semantic proximity Read ↗

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studiesSemantic proximity Read ↗

Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcomeSemantic proximity Read ↗

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