Literature DB >> 7358383

Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother.

A Schinzel.   

Abstract

A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inhherited balanced t(13;20)(p11;q11) translocation.

Entities:  

Mesh：

Year:  1980        PMID： 7358383     DOI： 10.1007/bf00273490

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


  8 in total

1.  Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).

Authors:  O Sanchéz; P Mamunes; J J Yunis
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

2.  A case of trisomy 20?

Authors:  J Wahlström; J Borsgärd; K G Sabel
Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438

3.  Trisomy of chromosome 20.

Authors:  S F Pan; S R Fatora; J E Haas; M W Steele
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

4.  Trisomy 20 mosaicism.

Authors:  X Carbonell; M R Caballin; A Rubio; J Egozcue
Journal:  Acta Paediatr Scand       Date:  1977-11

5.  Trisomy 20q due to maternal t(16;20) translocation. First case.

Authors:  I H Pawlowitzki; H Gröbe; W Holzgreve
Journal:  Clin Genet       Date:  1979-02       Impact factor: 4.438

6.  Amniotic fluid cell mosaicism for presumptive trisomy 20.

Authors:  M L Rodriguez; D Luthy; J G Hall; T H Norwood; H Hoehn
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

7.  Trisomy for short arm of chromosome 20.

Authors:  I Subrt; V Brychnác
Journal:  Humangenetik       Date:  1974

8.  Trisomy F(?20). Report of A 14q-F(?20) familial translocation.

Authors:  E Krmpotic; I M Rosenthal; K Szego; M Bocian
Journal:  Ann Genet       Date:  1971-12
  8 in total
  5 in total

Review 1.  Cleidocranial dysplasia: clinical and molecular genetics.

Authors:  S Mundlos
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

2.  A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

Authors:  G J Feldman; N H Robin; L A Brueton; E Robertson; E M Thompson; J Siegel-Bartelt; D L Gasser; L C Bailey; E H Zackai; M Muenke
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

3.  The gene for bone morphogenetic protein 2A (BMP2A) is localized to human chromosome 20p12 by radioactive and nonradioactive in situ hybridization.

Authors:  V V Rao; C Löffler; J M Wozney; I Hansmann
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

4.  A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.

Authors:  Jeong-Eun Kang; Mi Young Park; Chong Kun Cheon; Hyoung Doo Lee; Sang-Hyun Hwang; Jongyoun Yi
Journal:  Ann Lab Med       Date:  2011-12-20       Impact factor: 3.464

5.  Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.

Authors:  Ebrahim Jamali; Raziyeh Khalesi; Fatemeh Bitarafan; Navid Almadani; Masoud Garshasbi
Journal:  Iran Biomed J       Date:  2021-07-01
  5 in total

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