Online ISSN: 2515-8260

Keywords : Cytogenetic

Cytogenetic Evaluation of an Indian Boy with Ring Chromosome 14 Mosaicism: A Case Study and Literature Review

Neelam Thakur

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 7, Pages 4451-4454

The ring 14 chromosome is a rare chromosomal aberration characterized by a distinct
phenotype consisting of dysmorphic features including mental retardation, epileptic
seizures, ocular anomalies, microcephaly, pre-mature birth, late birth cry, skin
pigmentation, short neck and low set ears. Cytogenetic evaluation was done on 17 years
boy who was discovered to have previously undescribed chromosomal abnormality 42, XY,
14(r), -14 +Marker/ 44, XY. The parents had the normal karyotypes that indicate de novo
origin of this abnormality. Stanford - Binet test was performed to assess the degree of
severity of mental retardation and was found to be mild (IQ: 50-55 to 70). To our
knowledge this is the first report evaluated with ring (14) mosaicism. Literature of
published cases is reviewed in this article but none of these reports pertain mosaicism of
this type.