Literature DB >> 6540242

Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.

F F Elder, J W Ferguson, L H Lockhart.   

Abstract

An interstitial deletion of the long arm of chromosome 16 has been identified in identical twins. These patients are strikingly similar phenotypically to previously reported cases of deletion 16q syndrome but differ chromosomally in that their deletion involves the 16q12.2-q13 rather than the 16q21. We propose that the 16q12.2-q13 is the "critical region" in the production of this rare but distinctive phenotype.

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Year:  1984        PMID： 6540242     DOI： 10.1007/bf00273010

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

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Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

2.  Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21).

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Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

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Journal:  J Pediatr       Date:  1970-05       Impact factor: 4.406

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Authors:  C C Lin; R B Lowry; F F Snyder
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

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Journal:  Ann Genet       Date:  1981

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Journal:  Rev Pediatr Obstet Ginecol Pediatr       Date:  1981 Oct-Dec

7.  A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22).

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Journal:  Birth Defects Orig Artic Ser       Date:  1978

8.  The characterization of high-resolution G-banded chromosomes of man.

Authors:  J J Yunis; J R Sawyer; D W Ball
Journal:  Chromosoma       Date:  1978-08-14       Impact factor: 4.316

9.  Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?

Authors:  J P Fryns; J Bande-Knops; H Van Den Berghe
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

10.  An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1981
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  8 in total

1.  High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.

Authors:  J Becker-Follmann; A Gaa; E Baùsch; E Natt; G Scherer; O von Deimling
Journal:  Mamm Genome       Date:  1997-03       Impact factor: 2.957

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Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

3.  Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

Authors:  U Trautmann; R A Pfeiffer; U Seufert-Satomi; H U Tietze
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

4.  Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.

Authors:  Bruna Lixinski Diniz; Andressa Schneiders Santos; Andressa Barreto Glaeser; Bruna Baierle Guaraná; Cláudia Fernandes Lorea; Juliana Alves Josahkian; Janaína Huber; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal:  J Pediatr Genet       Date:  2020-06-17

5.  High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Authors:  D F Callen; H Eyre; S Lane; Y Shen; I Hansmann; N Spinner; E Zackai; D McDonald-McGinn; S Schuffenhauer; J Wauters
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

6.  Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

Authors:  A Cooke; J Tolmie; W Darlington; E Boyd; R Thomson; M A Ferguson-Smith
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

7.  Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palate.

Authors:  Nurul Syazana Mohamad Shah; Sarina Sulong; Wan Azman Wan Sulaiman; Ahmad Sukari Halim
Journal:  Mol Genet Genomic Med       Date:  2019-03-28       Impact factor: 2.183

8.  Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Authors:  Tanya M Bardakjian; Adele S Schneider; David Ng; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2009-12-16       Impact factor: 2.103
  8 in total

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