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Literature DB >> 6224737

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

P Balestrazzi, M A Baeteman, M G Mattei, J F Mattei.

Abstract

We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hexosaminidase B activity suggests the localization of this gene on the 5q11 band.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1983 PMID： 6224737 DOI： 10.1007/bf00279420

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

16 in total

1. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

Authors: R S Sparkes; S Targum; E Gershon; G F Sensabaugh; M C Sparkes; M Crist
Journal: Hum Genet Date: 1979-02-15 Impact factor: 4.132

2. Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father.

Authors: M R Caballín; R Miró; J Egozcue
Journal: Clin Genet Date: 1981-12 Impact factor: 4.438

3. Major rearrangement in the human beta-globin gene cluster.

Authors: R W Jones; J M Old; R J Trent; J B Clegg; D J Weatherall
Journal: Nature Date: 1981-05-07 Impact factor: 49.962

4. Are balanced translocations really balanced? Preliminary cytogenetic evidence for position effect in man.

Authors: F Hecht; B Kaiser-McCaw; S Patil; H E Wyandt
Journal: Birth Defects Orig Artic Ser Date: 1978

5. Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome.

Authors: C Stahl-Maugé; P Weiss-Wichert; P Propping
Journal: Hum Genet Date: 1982 Impact factor: 4.132

6. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Authors: S Ayme; M G Mattei; J F Mattei; F Giraud
Journal: Hum Genet Date: 1979-04-17 Impact factor: 4.132

7. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

Authors: P A Jacobs; P A Hunt; M Mayer; R D Bart
Journal: Am J Hum Genet Date: 1981-07 Impact factor: 11.025

8. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

Authors: E Beutler; W Kuhl; D Comings
Journal: Am J Hum Genet Date: 1975-09 Impact factor: 11.025

9. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.

Authors: J L Hamerton; N Canning; M Ray; S Smith
Journal: Clin Genet Date: 1975-10 Impact factor: 4.438

10. The role of position in determining homoeotic gene function in Drosophila.

Authors: G Morata; S Kerridge
Journal: Nature Date: 1982-11-11 Impact factor: 49.962

8 in total

1. Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Authors: M J Dixon; E Haan; E Baker; D David; N McKenzie; R Williamson; J Mulley; M Farrall; D Callen
Journal: Am J Hum Genet Date: 1991-02 Impact factor: 11.025

Review 2. Treacher Collins syndrome.

Authors: M J Dixon
Journal: J Med Genet Date: 1995-10 Impact factor: 6.318

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

1. Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

2. Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father.

3. Major rearrangement in the human beta-globin gene cluster.

4. Are balanced translocations really balanced? Preliminary cytogenetic evidence for position effect in man.

5. Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome.

6. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

7. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

8. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).

9. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.

10. The role of position in determining homoeotic gene function in Drosophila.

1. Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Review 2. Treacher Collins syndrome.

3. Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

4. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

5. Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.

6. Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;p11).

7. Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

8. Cytogenetic and clinical assessment of a family with treacher collins syndrome.