Literature DB >> 7436488

A child trisomic for the distal part of chromosome 14q.

G Bridgman, L J Butler.   

Abstract

A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. These were associated with partial trisomy for the distal half of the long arm of chromosome 14, the extra segment being translocated to the short arms of No 10. The main clinical problems were those related to the congenital heart disease and hypocalcaemia.

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Mesh：

Year:  1980        PMID： 7436488      PMCID： PMC1626950          DOI： 10.1136/adc.55.6.474

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  2 in total

1.  [Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].

Authors:  O Raoul; M O Rethoré; B Dutriliaux; L Michon; J Lejeune
Journal:  Ann Genet       Date:  1975-03

2.  [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
  2 in total
  7 in total

1.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors:  D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

Authors:  M M Lai; P N Scriven; C Ball; A C Berry
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

Review 3.  Distal trisomy 14q. I. Clinical and cytogenetical studies.

Authors:  S Gilgenkrantz; J Vigneron; M O Peter; J L Dufier; M Teboul; M Chery; G Keyeux; M P Lefranc
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

4.  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

5.  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

6.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

Review 7.  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
  7 in total

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