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

Infantile spasms associated with proximal duplication of chromosome 15q.

Pediatric neurology - 1 Sept 1996

Bingham P M, Spinner N B, Sovinsky L, Zackai E H, Chance P F

Abstract excerpt

We describe a case of infantile spasms associated with a chromosome abnormality (supernumerary inverted duplication of chromosome 15 [47,XX,+inv dup(15)]). The patient was nondysmorphic and presented with mild hypotonia and delay in acquisition of gross motor milestones before the diagnosis of seizures at age 7 months. Additional features included unilateral sensorineural deafness and torticollis. Molecular...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Aberrations
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 15

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

Share to Follow-Up Studies

Share to Infant

Share to Infant, Newborn

Share to Karyotyping

Share to Phenotype

Source

Identifiers

PMID: 8888053
DOI: 10.1016/0887-8994(96)00119-1

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

Infantile spasms associated with proximal duplication of chromosome 15q.PMID 8888053Read ↗

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Semantic proximity Read ↗

The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.Semantic proximity Read ↗

Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat).Semantic proximity Read ↗

The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Semantic proximity Read ↗

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.Semantic proximity Read ↗

Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.Semantic proximity Read ↗

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.Semantic proximity Read ↗

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).Semantic proximity Read ↗

Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorderSemantic proximity Read ↗

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.Semantic proximity Read ↗

Partial hexasomy of chromosome 15.Semantic proximity Read ↗

A case of 15q11-q13 duplication syndrome and literature review.Semantic proximity Read ↗

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