Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.

doi:10.1002/ajmg.a.10044

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

Back to search

Article

Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature.

American journal of medical genetics. Part A - 15 Mar 2003

Parmar Ramesh C, Muranjan Mamta N, Kotvaliwale S, Sharma Seema, Bharucha B A

Abstract excerpt

A ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15-year-old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated...

Topics

Abnormalities, Multiple
Adolescent
Bone and Bones
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 12
Developmental Disabilities
Female
Fingers
Growth Disorders
Heart Septal Defects, Atrial
Humans
In Situ Hybridization, Fluorescence
Phenotype
Ring Chromosomes

Source

Open in PubMed

Identifiers

PMID: 12599192
DOI: 10.1002/ajmg.a.10044

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics