Literature DB >> 468248

Partial trisomy 4q in two unrelated cases.

M Andrle, A Erlach, A Rett.   

Abstract

Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.

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Mesh：

Year:  1979        PMID： 468248     DOI： 10.1007/bf00277640

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


  6 in total

1.  Partial trisomy 4q syndrome: case report and review.

Authors:  J Cervenka; G R Djavadi; R J Gorlin
Journal:  Hum Genet       Date:  1976-09-10       Impact factor: 4.132

2.  Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family.

Authors:  M Andrle; A Erlach; W Killian; A Rett
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

3.  Partial trisomy 4q due to familial 2/4 translocation.

Authors:  B Biederman; P Bowen
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

4.  A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.

Authors:  J Nielsen; K Rasmussen; L B Lassen; F Christansen
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

5.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316

6.  Multiple congenital defects associated with trisomy for long arm of No. 4.

Authors:  M Issa; A M Potter; C E Blank
Journal:  J Med Genet       Date:  1976-08       Impact factor: 6.318
  6 in total
  2 in total

1.  Trisomy 4q: 46, xy,-11, +der (11), t(4;11) (q27; q25) pat in a child with multiple congenital anomalies.

Authors:  S A al-Awadi; K K Naguib; S A al-Othman; T S Sundareshan
Journal:  Indian J Pediatr       Date:  1988 Mar-Apr       Impact factor: 1.967

2.  Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

Authors:  O Zuffardi; A Caiulo; P Maraschio; R Tupler; E Bianchi; P Amisano; G Beluffi; R Moratti; G Liguri
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132
  2 in total

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