Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus.

Literature DB >> 3656375

Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus.

Abstract

A fetus, which was spontaneously aborted at 12 weeks' gestation, was found to have a generalised bone dysplasia and an unbalanced karyotype with trisomy for 17q23.1----qter due to a maternal translocation: 46,XX,t(5;17)(p15.3;q23.1)mat.

Entities: Disease

Mesh：

Year: 1987 PMID： 3656375 PMCID： PMC1050211 DOI： 10.1136/jmg.24.8.502

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

6 in total

1. Prenatal diagnosis of genetic osteochondrodysplasias.

Authors: T E Kelly; J G Hall; W Horton; C I Scott
Journal: Am J Med Genet Date: 1983-10

2. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

Authors: M L Chu; C J Williams; G Pepe; J L Hirsch; D J Prockop; F Ramirez
Journal: Nature Date: 1983 Jul 7-13 Impact factor: 49.962

3. Partial duplication of distal 17q.

Authors: J Bridge; W Sanger; G Mosher; B Buehler; C Hearty; A Olney; R Fordyce
Journal: Am J Med Genet Date: 1985-10

4. Collagen genes and proteins in osteogenesis imperfecta.

Authors: F M Pope; A C Nicholls; J McPheat; P Talmud; R Owen
Journal: J Med Genet Date: 1985-12 Impact factor: 6.318

5. Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

Authors: J U Gallien; R L Neu; R J Wynn; N Steinberg-Warren; R M Bannerman
Journal: Am J Med Genet Date: 1981

6. Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Authors: R Bernstein; J Isdale; M Pinto; J Du Toit Zaaijman; T Jenkins
Journal: J Med Genet Date: 1985-02 Impact factor: 6.318

6 in total

3 in total