Literature DB >> 3385745

Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.

A S Knisely1, A Richardson, D Abuelo, S Casey, D B Singer.   

Abstract

An infant who died of complications of osteogenesis imperfecta (OI) at 22 days of age had a 46,XY,inv(7)(p13q22) karyotype. His mother carried the same inversion. One breakpoint of the inversion was within the region of the gene for alpha 2(I) procollagen. The product of this gene is a component of type I collagen, the principal collagen synthesised by osteoblasts. Karyotypic abnormalities involving type I collagen gene sites have not previously been reported in association with OI.

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Year:  1988        PMID： 3385745      PMCID： PMC1050466          DOI： 10.1136/jmg.25.5.352

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


  8 in total

1.  Weights of organs of fetuses and infants.

Authors:  D M SCHULZ; D A GIORDANO; D H SCHULZ
Journal:  Arch Pathol       Date:  1962-09

2.  The 1985 Catalog of Mapped Genes and report of the Nomenclature Committee.

Authors:  P J McAlpine; T B Shows; R L Miller; A J Pakstis
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3.  [A case of generalized tissue fragility with a previously unpublished karyotype, in a child who died during a spectacular extraction].

Authors:  J Richon; G Brunel; A Gilbenkrantz; J M Masson
Journal:  Bull Fed Soc Gynecol Obstet Lang Fr       Date:  1971 Sep-Oct

4.  [Osteogenesis imperfecta. (Vroelik's early form). Clinical observations on a clinical case with biochemical and genetic study].

Authors:  G P Ninatti; P L Patriarca
Journal:  Minerva Pediatr       Date:  1968-07-28       Impact factor: 1.312

5.  [Ring-like chromosome 18 and osteogenesis imperfecta in a family in which spontaneous abortions appear].

Authors:  S Marković; K Mijin; Z Radojković; Lj Lopicić
Journal:  Srp Arh Celok Lek       Date:  1979-03       Impact factor: 0.207

6.  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

7.  Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

Authors:  W J de Wet; T Pihlajaniemi; J Myers; T E Kelly; D J Prockop
Journal:  J Biol Chem       Date:  1983-06-25       Impact factor: 5.157

8.  Short arm deletion of chromosome 12: report of two new cases.

Authors:  E Orye; M Craen
Journal:  Humangenetik       Date:  1975-08-25
  8 in total
  2 in total

1.  Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.

Authors:  R S Verma; R A Conte; J H Pitter; S Luke
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

2.  Lethal osteogenesis imperfecta.

Authors:  A S Knisely; D Abuelo; P H Byers
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318
  2 in total

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