Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q.

doi:10.1111/j.1442-200x.1993.tb03066.x

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Article

Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q.

Acta paediatrica Japonica : Overseas edition - 1 Aug 1993

Nakayama T, Sakakihara Y, Hanaoka S, Akagi K, Kamoshita S

Abstract excerpt

A patient with partial trisomy for the distal segment of the long arm of chromosome 5 (q35.1-->qter) with partial 18q monosomy is presented. The mother of the patient was phenotypically normal and was proved to be a carrier of a reciprocal translocation of the long arm of chromosomes 5 and 18 46,...

Topics

Abnormalities, Multiple
Basal Ganglia Diseases
Body Height
Calcinosis
Child
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 5
Eczema
Facial Bones
Foot Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hand Deformities, Congenital

Heterozygote

Humans

Intellectual Disability

Karyotyping

Male

Source

Open in PubMed

Identifiers

PMID: 8379328
DOI: 10.1111/j.1442-200x.1993.tb03066.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8379328-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q.PMID 8379328Read ↗

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Partial trisomy for short arm of chromosome 5.Semantic proximity Read ↗

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Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.Semantic proximity Read ↗

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