Literature DB >> 598833

Pericentric inversion and partial monosomy 4q associated with congenital anomalies.

F Serville, A Broustet.   

Abstract

A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter leads to 16::q24 leads to p16::q32 leads to qter) is reported in an infant with congenital anomalies and psychomotor retardation.

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Year:  1977        PMID： 598833     DOI： 10.1007/bf00287019

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  2 in total

1.  Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.

Authors:  M S Golbus; F A Conte; D L Daentl
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

2.  A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)].

Authors:  C Kempen
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318
  2 in total
  11 in total

1.  Interstitial deletion of the distal long arm of chromosome 4.

Authors:  P Sarda; G Lefort; J P Fryns; C Humeau; D Rieu
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

Review 2.  Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors:  Zeynep Tümer; Daniella Bach-Holm
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

3.  Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.

Authors:  A Schinzel; L Brecevic; F Dutly; A Baumer; F Binkert; R H Largo
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

4.  A new interstitial deletion of 4q (q21.1::q22.1).

Authors:  K Fagan; A Gill
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

Review 5.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

6.  A homozygote for pericentric inversion of chromosome 4.

Authors:  N J Carpenter; B Say; N D Barber
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

Review 7.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.

Authors:  T Motegi; K Nakamura; T Terakawa; A Oohira; K Minoda; K Kishi; Y Yanagawa; H Hayakawa
Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318

9.  Genetic heterogeneity in Rieger eye malformation.

Authors:  E Legius; C E de Die-Smulders; F Verbraak; H Habex; R Decorte; P Marynen; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

Review 10.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367
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