Literature DB >> 6654327

Interstitial deletion for a region in the long arm of chromosome 16.

C C Lin, R B Lowry, F F Snyder.   

Abstract

An infant with an interstitial deletion of chromosome 16 is reported. He showed severe psychomotor retardation and multiple congenital anomalies (craniofacial dysmorphism, cleft palate, endocardial cushion defect, preaxial polydactyly of one hand, low total ridge count). Unbanded chromosome studies following amniocentesis failed to identify the deletion. This case is very similar to other cases in the literature which were reported first by Fryns et al. (1977).

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Year:  1983        PMID： 6654327     DOI： 10.1007/BF00286649

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


  12 in total

1.  Gene dosage effect in human trisomy 16.

Authors:  B Marimo; F Giannelli
Journal:  Nature       Date:  1975-07-17       Impact factor: 49.962

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

Authors:  J P Fryns; S Melchoir; J Jaeken; H van den Berghe
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

3.  Assay of hypoxanthine-guanine phosphoribosyltransferase in human fibroblast lysates: inactivation of nucleotidase.

Authors:  G G Johnson; J W Littlefield
Journal:  Anal Biochem       Date:  1979-01-15       Impact factor: 3.365

4.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

5.  Interstitial 16q deletion with typical dysmorphic syndrome.

Authors:  J P Fryns; W Proesmans; G Van Hoey; H Van den Berghe
Journal:  Ann Genet       Date:  1981

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

Authors:  K Taysi; M Fishman; G S Sekhon
Journal:  Birth Defects Orig Artic Ser       Date:  1978

7.  Report of the committee on the genetic constitution of chromosomes 13 to 22. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

Authors:  M A Ferguson-Smith; A Westerveld
Journal:  Cytogenet Cell Genet       Date:  1982

8.  Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization.

Authors:  J A Tischfield; F H Ruddle
Journal:  Proc Natl Acad Sci U S A       Date:  1974-01       Impact factor: 11.205

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.  Fryns syndrome without deletion 16q.

Authors:  G B Coté; S Papadakou-Lagoyanni; M Kairis
Journal:  Ann Genet       Date:  1980
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  7 in total

1.  Interstitial deletion and ring chromosome derived from 16q.

Authors:  C M Krauss; D Caldwell; L Atkins
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

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

Authors:  F F Elder; J W Ferguson; L H Lockhart
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  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

4.  Familial fragile site found at the cancer breakpoint (1)(q32). Inducibility by distamycin A, concomitance with fragile (16)(q22).

Authors:  F Shabtai; J Hart; D Klar; I Halbrecht
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

5.  Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.

Authors:  E Natt; E M Westphal; S E Toth-Fejel; R E Magenis; N R Buist; R Rettenmeier; G Scherer
Journal:  Hum Genet       Date:  1987-12       Impact factor: 4.132

6.  Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

Authors:  Anna Lengyel; Éva Pinti; Thomas Eggermann; György Fekete; Irén Haltrich
Journal:  Mol Syndromol       Date:  2021-07-15

7.  Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.

Authors:  Gabrielle Henslee; Christopher L Williams; Pengfei Liu; Alison A Bertuch
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-02-19
  7 in total

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