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

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

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

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 lumbar lordosis, and ostium secundum atrial septal defect (ASD). The clinical features of reported cases are analyzed. The only consistent features were growth retardation and mental deficiency. Breakpoint in all the cases has been at the telomeric region with minimal deletion of chromosomal material. An account of complex changes at mitosis and meiosis in ring chromosome has been given. Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, -12. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome.

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

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

PUBLICATION TYPE: Review

Journal: American journal of medical genetics. Part A

VOLUME: 117A

Page Numbers: 275-7

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 15

MONTH: Mar

YEAR: 2003

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

Number of References: 9

LANGUAGE: eng

NlmUniqueID: 101235741

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

KEYWORDS: Ring Chromosomes

MESH TERMS: pathology

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

AFFILIATION: The Genetics Division, Department of Pediatrics, Seth G. S. Medical College and K. E. M. Hospital, Parel, Mumbai 400 055, India. rameshparmar@yahoo.com

Country: United States

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MEDLINETA: Am J Med Genet A

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