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

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

American journal of medical genetics - 5 Sept 1997

Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E

Abstract excerpt

A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel syndrome or microcephalic primordial dwarfism I. Analysis of prometaphase chromosomes, fluorescent in situ hybridization (FISH), and molecular studies showed the presence of a de novo chromosome 2 deletion that could be defined as...

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 Deletion
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Markers

Share to In Situ Hybridization, Fluorescence

Share to Infant

Share to Karyotyping

Share to Phenotype

Source

Identifiers

PMID: 9286460

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.PMID 9286460Read ↗

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2Semantic proximity Read ↗

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.Semantic proximity Read ↗

Clinical and genetic heterogeneity of Seckel syndrome.Semantic proximity Read ↗

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.Semantic proximity Read ↗

Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age.Semantic proximity Read ↗

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.Semantic proximity Read ↗

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.Semantic proximity Read ↗

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.Semantic proximity Read ↗

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.Semantic proximity Read ↗

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literatureSemantic proximity Read ↗

Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

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