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Aortic Ring Assay
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Published on: November 24, 2009

The ring 14 syndrome.

Marcella Zollino1, Emanuela Ponzi, Giuseppe Gobbi

  • 1Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Largo F. Vito 1, Rome, Italy.

European Journal of Medical Genetics
|May 9, 2012
PubMed
Summary
This summary is machine-generated.

Ring 14 syndrome, a rare genetic disorder, presents with distinct physical and neurological features, including intellectual disability and epilepsy. Genetic analysis reveals deletions and duplications on chromosome 14, influencing specific symptoms.

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Area of Science:

  • Genetics
  • Clinical Medicine
  • Rare Diseases

Background:

  • Ring 14 syndrome is a rare chromosomal disorder with limited clinical and genetic understanding.
  • It is characterized by a recognizable phenotype including growth issues, distinct facial features, microcephaly, scoliosis, ocular abnormalities, intellectual disability, and epilepsy.

Purpose of the Study:

  • To review existing literature and present findings from 27 patients with ring 14 syndrome.
  • To correlate specific genetic alterations with clinical manifestations.

Main Methods:

  • Literature review and clinical data analysis of 27 patients.
  • Genetic analysis including assessment of ring completeness, deletions, duplications, and uniparental disomy (UPD).

Main Results:

  • Phenotypic features include short stature, distinctive facial appearance, microcephaly, scoliosis, ocular abnormalities (retinal pigmentation, retinitis pigmentosa, strabismus, glaucoma), intellectual disability, behavioral issues, and drug-resistant epilepsy.
  • In 27 patients, 6 had complete rings, while 21 had terminal deletions (0.3-5 Mb). Two patients also had cryptic 14q duplications.
  • Deleted rings were of paternal (75%) or maternal (25%) origin; UPD (14) was excluded.

Conclusions:

  • Retinal abnormalities and epilepsy are linked to the proximal 14q11.2-q12 region, potentially due to heterochromatinization.
  • Behavioral disorders and infection susceptibility may be associated with the 14q32 region, likely due to haploinsufficiency.