Ring chromosome 7 in an Indian woman.

Abstract

BACKGROUND:

Ring chromosome 7 [r(7)] is a rare cytogenetic aberration, with only 16 cases (including 3 females) reported in the literature to date. This is the first reported case of r(7) from India.

METHOD:

Clinical and cytogenetic investigations were carried out in an adult female with microcephaly and intellectual disability.

RESULTS:

Ring chromosome 7 was observed in 10% of the metaphases (46,XX,r(7)/46,XX). The clinical findings revealed microcephaly, growth delay, and dark pigmented naevi.

CONCLUSION:

The mosaicism for a chromosomal anomaly is an under-recognised cause of intellectual disability.

• Authors: Anupam Kaur, Sumit Dhillon, P D Garg, Jai Rup Singh
• Journal: Journal of intellectual & developmental disability (J Intellect Dev Disabil) Vol. 33 Issue 1 Pg. 87-94 (Mar 2008) ISSN: 1366-8250 [Print] England
• PMID: 18300171 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Banding
• Chromosomes, Human, Pair 7 (genetics)
• Dwarfism (genetics)
• Humans
• India
• Intellectual Disability (diagnosis, genetics)
• Karyotyping
• Lymphocytes (metabolism)
• Metaphase
• Microcephaly (diagnosis, genetics)
• Mosaicism
• Nevus, Pigmented (genetics)
• Phenotype
• Ring Chromosomes
• Skin Neoplasms (genetics)