Literature DB >> 853317

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

H J Kim, L Y Hsu, L C Goldsmith, L Strauss, K Hirschhorn.   

Abstract

A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.

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Year:  1977        PMID： 853317      PMCID： PMC1013525          DOI： 10.1136/jmg.14.2.114

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


  18 in total

1.  AUTOSOMAL ABNORMALITIES.

Authors:  D W SMITH
Journal:  Am J Obstet Gynecol       Date:  1964-12-01       Impact factor: 8.661

2.  Multiple congenital anomaly caused by an extra autosome.

Authors:  K PATAU; D W SMITH; E THERMAN; S L INHORN; H P WAGNER
Journal:  Lancet       Date:  1960-04-09       Impact factor: 79.321

3.  [Partial trisomy 21 (21q21 - 21q22.2)].

Authors:  M Poissonnier; B Saint-Paul; B Dutrillaux; M Chassaigne; P Gruyer; G de Blignières-Strouk
Journal:  Ann Genet       Date:  1976-03

Review 4.  The structure and function of chromatin.

Authors:  D E Comings
Journal:  Adv Hum Genet       Date:  1972

5.  Prenatal detection of D trisomy.

Authors:  K M Laurence; P J Gregory; F Sharp
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

6.  Antenatal diagnosis of Patau's syndrome (trisomy 13) including a detailed pathological study of the fetus.

Authors:  L J Butler; H E Reiss; N E France; S Briddon
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

7.  Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography.

Authors:  W R Breg
Journal:  Stain Technol       Date:  1972-03

8.  Nodular renal blastema. Definition and possible significance.

Authors:  K E Bove; H Koffler; A J McAdams
Journal:  Cancer       Date:  1969-08       Impact factor: 6.860

9.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

10.  Trisomy 22. Two new cases and delineation of the phenotype.

Authors:  V B Penchaszadeh; R Coco
Journal:  J Med Genet       Date:  1975-06       Impact factor: 6.318
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  14 in total

1.  A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

Authors:  N Helali; A K Iafolla; S G Kahler; M B Qumsiyeh
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       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.  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

5.  Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

6.  Trisomy 22 and intersex.

Authors:  R M Nicholl; L Grimsley; L Butler; R W Palmer; H C Rees; M O Savage; K Costeloe
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1994-07       Impact factor: 5.747

7.  Familial translocation leading to partial trisomy 13: report of three cases.

Authors:  S A Tharapel; R C Lewandowski; M K Kukolich
Journal:  Indian J Pediatr       Date:  1984 Jul-Aug       Impact factor: 1.967

8.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.

Authors:  J L Watt; I A Olson; A W Johnston; H S Ross; D A Couzin; G S Stephen
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

10.  Global survey of protein expression during gonadal sex determination in mice.

Authors:  Katherine Ewen; Mark Baker; Dagmar Wilhelm; R John Aitken; Peter Koopman
Journal:  Mol Cell Proteomics       Date:  2009-07-17       Impact factor: 5.911
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