Literature DB >> 598832

Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

J P Fryns, B Van Bosstraeten, H Malbrain, H Van den Berghe.   

Abstract

This report describes a polymalformed female newborn presenting an interstitial deletion of the long arms of chromosome 2. Karyotype: 46,XX,del(2)(q21 q24).

Mesh:

Year:  1977        PMID: 598832     DOI: 10.1007/bf00287018

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


  10 in total

1.  A cytogenetic study of human spontaneous abortions using banding techniques.

Authors:  M R Creasy; J A Crolla; E D Alberman
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  [A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

Authors:  S Warter; C Lausecker; A Pennerath
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

3.  [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].

Authors:  A Forabosco; B Dutrillaux; G Toni; G Tamborino; G Cavazzuti
Journal:  Ann Genet       Date:  1973-12

4.  [Familial translocation 2-D].

Authors:  N Ricci; B Dallapiccola; G Cotti
Journal:  Ann Genet       Date:  1968-06

5.  MN blood-group locus: data concerning the possible chromosomal location.

Authors:  J German; M E Walker; F H Stiefel; F H Allen
Journal:  Science       Date:  1968-11-29       Impact factor: 47.728

6.  Duplication deficiency syndrome in familial translocation (2q-;5p+).

Authors:  J B Bijlsma; H de France; E M Bleeker-Wagemakers
Journal:  Humangenetik       Date:  1971

7.  [Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)].

Authors:  J Couturier; A Aurias; M Prieur; A Barois
Journal:  Ann Genet       Date:  1977-03

8.  Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

Authors:  J A Sills; K E Buckton; J A Raeburn
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

9.  Partial trisomy 2q and familial translocation t(2;12)(q31;q24).

Authors:  B Zabel; S Hansen; W Hartmann
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

10.  Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

Authors:  J German; R S Chaganti
Journal:  Science       Date:  1973-12-21       Impact factor: 47.728

  10 in total
  9 in total

1.  Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors:  P E Lundbech; T Thøgersen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

2.  Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata.

Authors:  J P Fryns; P De Waele; H Van Den Berghe
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

3.  Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

Authors:  S A Al-Awadi; T I Farag; K Naguib; A Teebi; A Cuschieri; S Al-Othman; T S Sundareshan
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

4.  Interstitial deletion 2q24.3: case report with high resolution banding.

Authors:  J Bernar; R S Sparkes; S Allensworth
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

5.  Interstitial deletion (2)(p13p15).

Authors:  D Duca; D Ioan; P Meilă; M Ionescu-Cerna; L Simionescu; C Maximilian
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors:  D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

7.  Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Authors:  R S Young; S D Shapiro; K L Hansen; L K Hine; D E Rainosek; F A Guerra
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

8.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 9.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

  9 in total

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