Literature DB >> 1150265

[Phenotypic variation in partial trisomy 4q (author's transl)].

W Vogel, J W Siebers, J Gunkel.   

Abstract

The clinical and cytogenetic data of 3 non-related patients who have a partial trisomy 4q in common are reported. The chromosome aberration originated from a parental balanced translocation in 2 cases (t(3p+;4q--)and t(4q--;18q+)); in the 3rd case an inverted insertion of 4q22 yields q34 into 4q34 occured spontaneously. A comparison of the symptoms exhibited by these probands and 7 cases from the literature gives no indication of an uniform phaenotype of this aberration.

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Mesh：

Year:  1975        PMID： 1150265     DOI： 10.1007/bf00735742

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  12 in total

1.  Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Authors:  Lucie Tosca; Sophie Brisset; François M Petit; Laure Lecerf; Ghislaine Rousseau; Cécile Bas; Mireille Laroudie; Marie-Laure Maurin; Sylvie Tapia; Olivier Picone; Sophie Prevot; Michel Goossens; Philippe Labrune; Gérard Tachdjian
Journal:  Eur J Hum Genet       Date:  2010-04-28       Impact factor: 4.246

2.  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

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.  A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.

Authors:  Pavlos Fanis; Elisavet Efstathiou; Vassos Neocleous; Leonidas A Phylactou; Adamos Hadjipanayis
Journal:  J Genet       Date:  2019-03       Impact factor: 1.166

6.  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

7.  Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23).

Authors:  M Stella; A Bonfante; G Ronconi; G Rossi
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

8.  Endocrine abnormalities in a patient with partial trisomy 4q.

Authors:  M A Angulo; M Castro-Magana; J Sherman; P J Collipp; J Milson; C Trunca; A N Derenoncourt
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

9.  Confirmation of a de novo duplication, dup(10)(q24 leads to q26), by GOT1 gene dosage studies.

Authors:  D J Tomkins; B J Gitelman; M H Roberts
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11).

Authors:  A Bonfante; M Stella; G Rossi
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132
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