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

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver‐Russell patient

28 Jun 2002

Abstract excerpt

We present the case of a maternal heterodisomy for chromosome 7 in the daughter of a t(7;16)(q21;q24) reciprocal translocation carrier. The proband was referred to the hospital for growth retardation and minor facial dysmorphism without mental retardation. A diagnosis of Silver-Russell syndrome was suspected. Chromosomal analysis documented a 46,XX,t(7;16)(q21;q24)mat chromosome pattern. Microsatellite analysis...

Read the complete abstract on PubMed

Topics

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

Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12210300
DOI: 10.1002/ajmg.10570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver‐Russell patientPMID 12210300Read ↗

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

Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient.Semantic proximity Read ↗

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)Semantic proximity Read ↗

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.Semantic proximity Read ↗

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.Semantic proximity Read ↗

Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion.Semantic proximity Read ↗

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].Semantic proximity Read ↗

Deletion 2p15-16.1 syndrome: case report and review.Semantic proximity Read ↗

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosisSemantic proximity Read ↗

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.Semantic proximity Read ↗

Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.Semantic proximity Read ↗

An interstitial deletion of chromosome 7 at band q21: a case report and review.Semantic proximity Read ↗

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