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Literature DB >> 671492

Deletion 14q and pericentric inversion 14.

J Nielsen, A Homma, K Rasmussen, E Ried, K Sorensen, P Saldana-Garcia.

Abstract

A woman with deletion 14q as well as inversion 14 is presented, and physical signs are compared with those of patients with deletion long arm 13. No previous case of deletion long arm 14 has been published.

Entities: Species

Mesh：

Year: 1978 PMID： 671492 PMCID： PMC1013686 DOI： 10.1136/jmg.15.3.236

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

18 in total

1. New chromosomal syndromes.

Authors: R C Lewandowski; J J Yunis
Journal: Am J Dis Child Date: 1975-04

2. The distal triradius t on the hands of parents and sibs of mongol imbeciles.

Authors: L S PENROSE
Journal: Ann Hum Genet Date: 1954-07 Impact factor: 1.670

3. [Deletion of chromosome D (13q - ) in a child with psychomotor retardation].

Authors: R Adámek; Z Kaspárková
Journal: Cesk Pediatr Date: 1974-01

4. Chromosome banding patterns in an infant with 13q minus syndrome.

Authors: T Ikeuchi; S Sonta; M Sasaki; M Hujita; K Tsunematsu
Journal: Humangenetik Date: 1974-03-28

5. Retinoblastoma and D-chromosome deletions.

Authors: M G Wilson; J W Towner; A Fujimoto
Journal: Am J Hum Genet Date: 1973-01 Impact factor: 11.025

6. [A new syndrome caused by deletion of a part of a chromosome (13 q-). Case descriptions and compilation of symptoms (author's transl)].

Authors: K P Grosse; G Schwanitz
Journal: Klin Padiatr Date: 1973-11 Impact factor: 1.349

7. Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome.

Authors: K Taysi; M Bobrow; S Balci; K Madan; M Atasu; B Say
Journal: J Pediatr Date: 1973-02 Impact factor: 4.406

8. Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.

Authors: H Hauksdóttir; S Halldórsson; O Jensson; M Mikkelsen; A McDermott
Journal: J Med Genet Date: 1972-12 Impact factor: 6.318

9. Pericentric inversion of a number 15 chromosome in nine members of one family.

Authors: B F Crandall; R S Sparkes
Journal: Cytogenetics Date: 1970

10. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors: B Noel; B Quack; M O Rethore
Journal: Clin Genet Date: 1976-06 Impact factor: 4.438

7 in total

1. A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

Authors: F S Yen; P E Podruch; B Weisskopf
Journal: J Med Genet Date: 1989-02 Impact factor: 6.318

7. Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).

Authors: Y Yamamoto; R Sawa; N Okamoto; A Matsui; M Yanagisawa; S Ikemoto
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132