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Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p

✍ Scribed by Françoise Serville; Claudine Junien; J. Cl. Kaplan; Monique Gachet; J. Cadoux; A. Broustet

Publisher: Springer
Year: 1978
Tongue: English
Weight: 390 KB
Volume: 45
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00277574

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✦ Synopsis

An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.

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Triplex gene dosage effect of TPI and G3

Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p

✍ C. Junien; J. C. Kaplan; F. Serville; G. Lenoir 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 132 KB

The EBV-induced lymphoblastoid line established from a patient carrying a duplication of the distal part of chromosome 12 short arm (12p13) retained the original partial trisomy and displayed the same triplex gene dosage effect for TPI and G3PD as found in the patient's RBC and WBC.