Literature DB >> 1084117

Trisomy 19 q.

M Lange, O S Alfi.   

Abstract

Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.

Entities:  

Mesh:

Year:  1976        PMID: 1084117

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  10 in total

1.  Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.

Authors:  S R Ghaffari; E Boyd; J M Connor; A M Jones; J L Tolmie
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

Review 2.  Gene mapping and chromosome 19.

Authors:  D J Shaw; J D Brook; A L Meredith; H G Harley; M Sarfarazi; P S Harper
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 3.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

4.  Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

Authors:  U Trautmann; R A Pfeiffer; U Seufert-Satomi; H U Tietze
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  Distal 19q duplication.

Authors:  J Zonana; M G Brown; R E Magenis
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

Authors:  P Stankiewicz; E Bocian; K Jakubów-Durska; E Obersztyn; E Lato; H Starke; K Mroczek; T Mazurczak
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

8.  Trisomy for the distal third of the long arm of chromosome 19 in brother and sister.

Authors:  W Schmid
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

9.  A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.

Authors:  D Valerio; F Lavorgna; M Scalona; A Conte
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

10.  Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review.

Authors:  Xinyue Zhang; Fagui Yue; Qingyang Shi; Yuting Jiang; Jing He; Leilei Li; Ruizhi Liu
Journal:  Mol Cytogenet       Date:  2021-01-15       Impact factor: 2.009

  10 in total

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