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Literature DB >> 469892

The 9p-syndrome.

Abstract

A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.

Entities: Gene Species

Mesh：

Year: 1979 PMID： 469892 PMCID： PMC1012787 DOI： 10.1136/jmg.16.1.75

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

10 in total

1. [Partial deletion of the short arm of the chromosome 9].

Authors: F Serville; D Allain; A Broustet; C Martin; M Gachet; J P Babin; J Cenraud
Journal: Ann Genet Date: 1976-06

2. The 9p- syndrome.

Authors: O S Alfi; G N Donnell; P W Allderdice; A Derencsenyi
Journal: Ann Genet Date: 1976-03

3. The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation.

Authors: E Orye; H Verhaaren; A M Van den Bogaert-Van Heesvelde
Journal: Clin Genet Date: 1975-11 Impact factor: 4.438

4. A case of 9p- syndrome.

Authors: Y Kuroki; S Yokota; H Nakai; Y Yamamoto; I Matsui
Journal: Hum Genet Date: 1977-08-31 Impact factor: 4.132

5. The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9.

Authors: J Nielsen; A Homma; F Christiansen; K Rasmussen; P Saldaña-Garcia
Journal: Clin Genet Date: 1977-08 Impact factor: 4.438

6. 46, Del (9) (22:), a new deletion syndrome.

Authors: O S Alfi; R G Sanger; A E Sweeny; G N Donnell
Journal: Birth Defects Orig Artic Ser Date: 1974

7. C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations.

Authors: D Elliott; G H Thomas; C J Condron; N Khuri; F Richardson
Journal: Am J Dis Child Date: 1970-01

8. Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

Authors: M C Sparkes; M Crist; R S Sparkes
Journal: Hum Genet Date: 1977-12-29 Impact factor: 4.132

9. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

Authors: E Beutler; M C Baluda
Journal: Clin Chim Acta Date: 1966-03 Impact factor: 3.786

10. Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

Authors: T Mohandas; R S Sparkes; M C Sparkes; J D Shulkin
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205

10 in total

6 in total

The 9p-syndrome.

1. [Partial deletion of the short arm of the chromosome 9].

2. The 9p- syndrome.

3. The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation.

4. A case of 9p- syndrome.

5. The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9.

6. 46, Del (9) (22:), a new deletion syndrome.

7. C-group chromosome abnormality (? 10p-). Occurrence in a child with multiple malformations.

8. Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

9. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes.

10. Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

Review 1. Eleven new cases of del(9p) and features from 80 cases.

2. Tourette's syndrome in a black woman with associated triple X and 9p mosaicism.

3. Where is the gene for GALT?

4. Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

5. Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.

6. Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.