Literature DB >> 3585948

Interstitial deletion and ring chromosome derived from 16q.

C M Krauss, D Caldwell, L Atkins.   

Abstract

An interstitial deletion of 16q was identified in an infant with failure to thrive, dysmorphic facies, and congenital heart defects. The mother of this infant had a similar deletion of 16q with ring formation of a fragment presumed to be derived from the deleted portion of 16q. We discuss these cases and compare them to other reports of 16q deletions.

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Year:  1987        PMID： 3585948      PMCID： PMC1050059          DOI： 10.1136/jmg.24.5.308

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


  12 in total

1.  The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.

Authors:  B McClintock
Journal:  Genetics       Date:  1938-07       Impact factor: 4.562

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

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

4.  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

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.  Monosomy 16q: a distinct syndrome. Apropos of a de novo del(16) (q2100q2300).

Authors:  H Rivera; E Vargas-Moyeda; M Möller; A Torres-Lamas; J M Cantú
Journal:  Clin Genet       Date:  1985-07       Impact factor: 4.438

7.  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

8.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984

9.  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

10.  Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters.

Authors:  J J Hoo; R B Lowry; C C Lin; R H Haslam
Journal:  Clin Genet       Date:  1985-04       Impact factor: 4.438
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  6 in total

1.  Interstitial deletion of proximal 8q including part of the centromere from unbalanced segregation of a paternal deletion/marker karyotype with neocentromere formation at 8p22.

Authors:  R D Burnside; J Ibrahim; C Flora; S Schwartz; J H Tepperberg; P R Papenhausen; P E Warburton
Journal:  Cytogenet Genome Res       Date:  2011-01-06       Impact factor: 1.636

2.  Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

Authors:  Erin L Baldwin; Lorraine F May; April N Justice; Christa L Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

3.  Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Authors:  C Stavropoulou; C Mignon; B Delobel; A Moncla; D Depetris; M F Croquette; M G Mattei
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

4.  Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.

Authors:  Anna Mantzouratou; Anastasia Mania; Marianna Apergi; Sarah Laver; Paul Serhal; Jda Delhanty
Journal:  Mol Cytogenet       Date:  2009-01-23       Impact factor: 2.009

5.  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

6.  Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization.

Authors:  Pietro Cignini; Angela Dinatale; Laura D'Emidio; Annamaria Giacobbe; Elisa Maria Pappalardo; Santina Ermito; Domenico Bizzoco; Gianluca Di Giacomo; Ivan Gabrielli; Alvaro Mesoraca; Maurizio Giorlandino; Claudio Giorlandino
Journal:  AJP Rep       Date:  2011-03-18
  6 in total

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