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Literature DB >> 9321769

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

C P Chen¹, C C Lee, L F Chen, C Y Chuang, S W Jan, B F Chen.

Abstract

We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.

Entities: Disease

Mesh：

Year: 1997 PMID： 9321769 PMCID： PMC1051067 DOI： 10.1136/jmg.34.9.777

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

11 in total

1. Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991.

Authors:
Journal: Cytogenet Cell Genet Date: 1991

2. Lobar holoprosencephaly and Xq22 deletion.

Authors: P Petit; P Moerman; J P Fryns
Journal: Genet Couns Date: 1991

3. De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly.

Authors: H Bruyere; B Favre; S Douvier; A Nivelon-Chevalier; F Mugneret
Journal: Prenat Diagn Date: 1996-11 Impact factor: 3.050

4. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Authors: E Belloni; M Muenke; E Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; C Helms; A V Hing; H H Heng; B Koop; D Martindale; J M Rommens; L C Tsui; S W Scherer
Journal: Nat Genet Date: 1996-11 Impact factor: 38.330

2. De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.

Authors: C P Chen; S R Chern; C C Lee; W L Chen; M H Chen; K M Chang
Journal: J Med Genet Date: 1998-12 Impact factor: 6.318

Review 3. Holoprosencephaly: a paradigm for the complex genetics of brain development.

Authors: E Roessler; M Muenke
Journal: J Inherit Metab Dis Date: 1998-08 Impact factor: 4.982

3 in total

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

1. Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991.

2. Lobar holoprosencephaly and Xq22 deletion.

3. De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly.

4. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

5. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Review 6. Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.

7. CNS anomalies and the midline as a "developmental field".

8. Holoprosencephaly: epidemiologic and clinical characteristics of a California population.

9. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

10. Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.

Review 1. Holoprosencephaly in deletions of proximal chromosome 14q.

2. De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.

Review 3. Holoprosencephaly: a paradigm for the complex genetics of brain development.