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De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia

✍ Scribed by Kato, Rumiko; Yamada, Yutaka; Niikawa, Norio

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
279 KB
Volume
66
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a sporadic case of heterotaxia with a de novo chromosome structural abnormality. The patient had inversely located heart (dextrocardia), stomach, duodenum, and cecum. In addition, she had cerebral atrophy, hypertelorism with telecanthus, infraorbital skin furrows, ear-lobe grooves, prominent maxilla and teeth, large carp mouth, short fifth fingers with limited flexion, generalized hypotonicity, and severe psychomotor retardation. High-resolution chromosome banding analysis demonstrated an apparently balanced translocation: 46,XX,t(6;18)(q2l;q21.3). It is hypothesized that both heterotaxia and the chromosomal abnormality in the patient are causally related and a putative situs determining gene has been disrupted by the chromosome break, i.e., a position effect or a cryptic deletion at around the breakpoints. The translocation in our patient may be a good source for positional cloning of the gene.

πŸ“œ SIMILAR VOLUMES

Erratum: Kato R, Yamada Y, Niikawa N (19
Erratum: Kato R, Yamada Y, Niikawa N (1996): De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia. Am J Med Genet 66:184–186
✍ Harris, David J. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 78 KB πŸ‘ 1 views

The breakpoints of the translocation are also recognized by precise observation as follows: (6;18)(q21 or q22;q21.3 or q22). Therefore, the title of the article above should be De Novo Balanced Translocation (6;18)(q21 or q22;q21.3 or q22) in a Patient With Heterotaxia.