Literature DB >> 305759

[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].

B Zabel, W Baumann.   

Abstract

Partial trisomy for the distal part of 15q due to a balanced maternal translocation t(X;15) is described in a 21-month old girl with growth and psychomotor retardation and a cranio-facial dysmorphism ressembling that of a previously reported patient. Treatment of lymphocytes with BrdU has shown inactivation of the normal X in the mother, and inactivation of either the abnormal or the normal X in the proposita. When the abnormal X was inactivated, the extent of inactivation of the autosome was variable.

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Year:  1977        PMID: 305759

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  11 in total

1.  Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21).

Authors:  J Couturier; B Dutrillaux; P Garber; O Raoul; M F Croquette; J C Fourlinnie; E Maillard
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

Review 2.  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

3.  Distal 15q trisomy: phenotypic comparison of nine cases in an extended family.

Authors:  P Schnatterly; K L Bono; M Robinow; H E Wyandt; N Kardon; T E Kelly
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

4.  De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter).

Authors:  H M Herr; C I Scott; S J Horton
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

5.  A complex chromosome rearrangement resulting in trisomy 15q22 to qter.

Authors:  P N Howard-Peebles; P R Scarbrough; J Sharpe; W H Finley; S C Finley
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318

6.  Duplication 15q22 to 15qter and its phenotypic expression.

Authors:  M J Gregoire; J Boue; C Junien; C Pernot; S Gilgenkrantz; L Zergollern
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 8.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

Review 9.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21).

Authors:  M Tzancheva; M Krachounova; Z Damjanova
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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