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Literature DB >> 7815441

Familial half cryptic translocation t(9;17).

Abstract

A half cryptic translocation t(9;17) (p24.2; p13.3) was detected in a large family by fluorescence in situ hybridisation. Unbalanced karyotypes resulted either in lissencephaly and early death or in mental retardation, microcephaly, high arched palate, and deformities of the vertebrae. Some of the features observed in affected persons are characteristic of known syndromes involving either 17p or 9p.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 7815441 PMCID： PMC1050082 DOI： 10.1136/jmg.31.9.712

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

9 in total

1. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Authors: C E Schwartz; J P Johnson; B Holycross; T M Mandeville; T S Sears; E A Graul; J C Carey; R J Schroer; M C Phelan; J Szollar
Journal: Am J Hum Genet Date: 1988-11 Impact factor: 11.025

Review 2. Eleven new cases of del(9p) and features from 80 cases.

Authors: J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal: J Med Genet Date: 1988-11 Impact factor: 6.318

3. Failure of X inactivation in the autosomal segment of an X/A translocation.

Authors: C G Palmer; T W Hubbard; G W Henry; D D Weaver
Journal: Am J Hum Genet Date: 1980-03 Impact factor: 11.025

Review 4. Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature.

Authors: C Schrander-Stumpel; J Schrander; J P Fryns; G Hamers
Journal: Clin Genet Date: 1990-02 Impact factor: 4.438

5. Clinical and molecular diagnosis of Miller-Dieker syndrome.

Authors: W B Dobyns; C J Curry; H E Hoyme; L Turlington; D H Ledbetter
Journal: Am J Hum Genet Date: 1991-03 Impact factor: 11.025

6. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

Authors: O Reiner; R Carrozzo; Y Shen; M Wehnert; F Faustinella; W B Dobyns; C T Caskey; D H Ledbetter
Journal: Nature Date: 1993-08-19 Impact factor: 49.962

7. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Authors: S A Ledbetter; A Kuwano; W B Dobyns; D H Ledbetter
Journal: Am J Hum Genet Date: 1992-01 Impact factor: 11.025

8. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

Authors: W B Dobyns; R F Stratton; F Greenberg
Journal: Am J Med Genet Date: 1984-07

Review 9. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

Authors: W B Dobyns; O Reiner; R Carrozzo; D H Ledbetter
Journal: JAMA Date: 1993-12-15 Impact factor: 56.272

9 in total

6 in total

1. Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Authors: H M Kingston; D H Ledbetter; P I Tomlin; K L Gaunt
Journal: J Med Genet Date: 1996-01 Impact factor: 6.318

Familial half cryptic translocation t(9;17).

1. Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Review 2. Eleven new cases of del(9p) and features from 80 cases.

3. Failure of X inactivation in the autosomal segment of an X/A translocation.

Review 4. Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature.

5. Clinical and molecular diagnosis of Miller-Dieker syndrome.

6. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

7. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

8. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

Review 9. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

1. Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

2. Detection of a familial cryptic translocation by fluorescent in situ hybridisation.

3. The nanophthalmic macula.

4. Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.

5. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

6. Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.