Literature DB >> 955630

A female infant with monosomy 21.

P Dziuba, D Dziekanowska, H Hübner.   

Abstract

A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal.

Entities:  

Mesh：

Year:  1976        PMID： 955630     DOI： 10.1007/BF00270866

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


  3 in total

1.  A male infant with monosomy 21.

Authors:  Y Kaneko; T Ikeuchi; M Sasaki; Y Stakae; S Kuwajima
Journal:  Humangenetik       Date:  1975-08-29

2.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

3.  The G deletion syndromes.

Authors:  R J Warren; D L Rimoin
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406
  3 in total
  10 in total

1.  Homologous Robertsonian translocation (21q21q) and abortions.

Authors:  T Sudha; P M Gopinath
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

2.  Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level.

Authors:  A M Kuliev; K N Grinberg; V I Kukharenko; V P Kulazenko; E A Bogomazov
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

3.  Monosomy 21: a new case confirmed by in situ hybridization.

Authors:  M C Pellissier; N Philip; M A Voelckel-Baeteman; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

4.  Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Authors:  M C Phelan; C C Morton; R E Stevenson; R E Tanzi; G D Stewart; P C Watkins; J F Gusella; J A Amos
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

5.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

6.  Familial translocation t(10;21)(q22;q22).

Authors:  A Delicado; I L Pajares; P Vicente; F Hawkins
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

7.  Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21.

Authors:  Jennifer M Katzenstein; John S Oghalai; Ross Tonini; Dian Baker; Jody Haymond; Susan E Caudle
Journal:  Neurocase       Date:  2009-01-26       Impact factor: 0.881

8.  A case of 21q--syndrome with normal SOD-1 activity.

Authors:  Y Yamamoto; N Ogasawara; A Gotoh; H Komiya; H Nakai; Y Kuroki
Journal:  Hum Genet       Date:  1979-05-10       Impact factor: 4.132

9.  Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.

Authors:  Trent Burgess; Lilian Downie; Mark D Pertile; David Francis; Melissa Glass; Sara Nouri; Rosalynn Pszczola
Journal:  Case Rep Genet       Date:  2014-02-04

10.  Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.

Authors:  Cathrine Jespersgaard; Ida N Damgaard; Nanna Cornelius; Iben Bache; Niels Knabe; Maria J Miranda; Zeynep Tümer
Journal:  Mol Cytogenet       Date:  2016-02-04       Impact factor: 2.009
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.