Literature DB >> 6881140

Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

M M Cohen, J Charrow, N E Balkin, C J Harris.   

Abstract

An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late replicating in the proposita, the autosomal segment was not inactivated, leading to functional trisomy for distal 14q. Phenotypic comparison to cases with similar duplications does not allow the clinical description of a partial trisomy syndrome.

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Mesh：

Year:  1983        PMID： 6881140      PMCID： PMC1685733     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  41 in total

1.  Trisomy 13 with a 13-X translocation.

Authors:  B F Crandall; R E Carrel; J Howard; W A Schroeder; H Müller
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

2.  Abnormal X chromosomes in man: origin, behavior and effects.

Authors:  E Therman; K Patau
Journal:  Humangenetik       Date:  1974

3.  Familial x/x translocation: t(x;x)(p22;q13)

Authors:  H J Kim; L Y Hsu; K Hirschhorn
Journal:  Cytogenet Cell Genet       Date:  1974

4.  X-autosome translocation in normal mother and effectively 21-monosomic daughter.

Authors:  R L Summitt; P R Martens; R S Wilroy
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

5.  Banding analysis of abnormal karyotypes in spontaneous abortion.

Authors:  T Kajii; K Oama; N Niikawa; A Ferrier; S Avirachan
Journal:  Am J Hum Genet       Date:  1973-09       Impact factor: 11.025

6.  Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+).

Authors:  R A Pfeiffer; K Büttinghaus; H Struck
Journal:  Humangenetik       Date:  1973

7.  Two human X-autosome translocations identified by autoradiography and fluorescence.

Authors:  M M Cohen; C C Lin; V Sybert; E J Orecchio
Journal:  Am J Hum Genet       Date:  1972-09       Impact factor: 11.025

8.  A familial X-22 translocation with an extra X chromosome.

Authors:  M B Jenkins; E Davis; T H Thelen; L Boyd
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

9.  [Mosaic 14 trisomy in a female child with multiple abnormalities].

Authors:  M O Rethoré; J Couturier; S Carpentier; J Ferrand; J Lejeune
Journal:  Ann Genet       Date:  1975-03

10.  Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

Authors:  J T Leisti; M M Kaback; D L Rimoin
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025
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  4 in total

1.  Duplication 14(q31----qter).

Authors:  D M Carr; K Jones-Quartey; M V Vartanian; H Moore-Kaplan
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

2.  Distal duplication 14q: report of three cases and further delineation of the syndrome.

Authors:  S L Sklower; E C Jenkins; S L Nolin; C J Duncan; D Warburton; K A Yeboa; A Merkrebs; R Schwartz; K Wisniewski; C Stimson
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions.

Authors:  Madson Q Almeida; Michelle Harran; Eirini I Bimpaki; Hui-Pin Hsiao; Anelia Horvath; Chris Cheadle; Tonya Watkins; Maria Nesterova; Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2011-01-20       Impact factor: 5.958

Review 4.  A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Genes (Basel)       Date:  2021-09-07       Impact factor: 4.096
  4 in total

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