Literature DB >> 4129973

An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.

D S Borgaonkar, V A McKusick, P A Farber.   

Abstract

Mesh：

Year:  1973        PMID： 4129973      PMCID： PMC1013061          DOI： 10.1136/jmg.10.4.379

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  10 in total

1.  CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA.

Authors:  G SCHACHENMANN; W SCHMID; M FRACCARO; A MANNINI; L TIEPOLO; G P PERONA; E SARTORI
Journal:  Lancet       Date:  1965-08-07       Impact factor: 79.321

2.  The syndrome of the metacentric microchromosome.

Authors:  G Abbo; H Zellweger
Journal:  Helv Paediatr Acta       Date:  1970-01

3.  Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus.

Authors:  D S Borgaonkar; W B Bias; G A Chase; G Sadasivan; H M Herr; H M Golomb; G F Bahr; L M Kunkel
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

4.  Evaluation of dermal patterns in Down's syndrome by predictive discrimination. I. Preliminary analysis based on frequencies of patterns.

Authors:  D S Borgaonkar; M Davis; D R Bolling; H M Herr
Journal:  Johns Hopkins Med J       Date:  1971-03

5.  Familial extra centric bisatellited chromosome.

Authors:  S Armendares; L Buentello; A Cuevas-Sosa; J M Cantú-Garza
Journal:  Cytogenetics       Date:  1969

6.  An 18p21q translocation in a patient with presumptive "monosomy G".

Authors:  M M Cohen; T I Putnam
Journal:  Am J Dis Child       Date:  1972-12

7.  Cat-eye syndrome, a partial trisomy 22.

Authors:  E M Bühler; K Méhes; H Müller; G R Stalder
Journal:  Humangenetik       Date:  1972

8.  Tertiary trisomy in a human kindred containing an E/G translocation.

Authors:  M N Macintyre; D B Walden; J M Hempel
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

9.  Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case.

Authors:  F M Weber; R R Dooley; R S Sparkes
Journal:  J Pediatr       Date:  1970-04       Impact factor: 4.406

10.  Report of five unrelated patients with a small, metacentric, extra chromosome or fragment.

Authors:  S Borgaonkar; R N Schimke; H Thomas
Journal:  J Genet Hum       Date:  1971-09
  10 in total
  11 in total

1.  Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

Authors:  R H Lindenbaum; M Bobrow
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

2.  Tertiary partial 14 trisomy 47, XX, plus 14q minus.

Authors:  J P Fryns; J J Cassiman; H Van den Berghe
Journal:  Humangenetik       Date:  1974

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.  Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1974

5.  Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations.

Authors:  H Nakai; Y Yamamoto; Y Kuroki
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

6.  Possible origin of a small bisatellited additional chromosome.

Authors:  H D Bartsch; L M de Azevedo Moreira; G Röhrborn; U Claussen; H J Gebauer
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11).

Authors:  O Mutchinick; L Ruz; R Jiménez
Journal:  Hum Genet       Date:  1978-11-24       Impact factor: 4.132

8.  Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

Authors:  A Schinzel; W Schmid; P Auf der Maur; H Moser; K H Degenhardt; M Geisler; A Grubisic
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 9.  [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

Authors:  J Kunze; M Tolksdorf; H R Wiedemann
Journal:  Humangenetik       Date:  1975

10.  Significance of detection of extra metacentric microchromosome in amniotic cell culture.

Authors:  R Bernstein; C Hakim; B Hardwick; G T Nurse
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318
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