Literature DB >> 6655674

Partial trisomy 14q24 leads to qter.

D R Romain, L M Columbano-Green, R H Smythe, R G Parfitt, O Gebbie, C J Chapman, M Wall.   

Abstract

A newborn male with partial trisomy for the distal part of the long arm of chromosome 14 (14q24 leads to qter) is described. The anomaly arose as an adjacent 1 meiotic segregation product from a balanced translocation t(11;14) (q25;q24) in the mother (figure). To our knowledge only one previous case involving the same segment has been reported. The karyotype was confirmed as 46,XY,der(11),t(11;14)(q25;q24) mat.

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Year:  1983        PMID： 6655674      PMCID： PMC1049185          DOI： 10.1136/jmg.20.6.466

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


  4 in total

1.  Partial trisomy 14q due to familial t(14q-,11q+) translocation.

Authors:  J P Fryns; M Van Eygen; W Tanghe; H Van Den Berghe
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

2.  A prenatally discovered unbalanced translocation t(14;22) (q22 or 23;q13).

Authors:  J WAHLSTROM
Journal:  Hereditas       Date:  1974       Impact factor: 3.271

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

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

4.  Trisomy 14 mosaicism: case report and review.

Authors:  V P Johnson; T Aceto; C Likness
Journal:  Am J Med Genet       Date:  1979
  4 in total
  4 in total

Review 1.  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

2.  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

3.  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

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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