Literature DB >> 7327578

A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.

Z Sichong, T H Bui, I Castro, L Iselius, S Håkansson, K M Lundmark.   

Abstract

A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46,XX,del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of two previously reported cases in the literature with an interstitial 3p deletion.

Entities:  

Mesh：

Year:  1981        PMID： 7327578     DOI： 10.1007/bf00293073

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


  15 in total

1.  An XYY man with progeny indicating familial tendency to non-disjunction.

Authors:  T S HAUSCHKA; J E HASSON; M N GOLDSTEIN; G F KOEPF; A A SANDBERG
Journal:  Am J Hum Genet       Date:  1962-03       Impact factor: 11.025

2.  A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21).

Authors:  H Kawashima; S Maruyama
Journal:  Jinrui Idengaku Zasshi       Date:  1979-03

3.  Partial trisomy 6.

Authors:  N Fitch
Journal:  Clin Genet       Date:  1978-09       Impact factor: 4.438

4.  Letter: Sex-chromosome abnormalities in husbands and wives.

Authors: 
Journal:  Lancet       Date:  1975-02-08       Impact factor: 79.321

5.  A patient with a partial deletion of the short arm of chromosome 3.

Authors:  M Verjaal; M B De Nef
Journal:  Am J Dis Child       Date:  1978-01

6.  Chromosome 3 duplication q/deletion p syndrome.

Authors:  R M Fineman; F Hecht; R C Ablow; R O Howard; W R Breg
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

7.  Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Authors:  P W Allderdice; N Browne; D P Murphy
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

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.  Abnormal children of a 47,XYY father.

Authors:  C Stoll; E Flori; A Clavert; D Beshara; P Buck
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

10.  Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

Authors:  H E Wyandt; R Kasprzak; J Ennis; K Willson; V Koch; P Schnatterly; W Wilson; T E Kelly
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025
View more
  6 in total

1.  Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Authors:  Vinit B Mahajan; Alexander G Bassuk
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

2.  Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2).

Authors:  J M Hertz; W Coerdt; N Hahnemann; M Schwartz
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

Review 3.  Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

Authors:  Catherine A Hajek; Jianling Ji; Sulagna C Saitta
Journal:  Mol Syndromol       Date:  2018-04-07

4.  Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Authors:  Erwin Petek; Christian Windpassinger; Burkhard Simma; Thomas Mueller; Klaus Wagner; Peter M Kroisel
Journal:  J Hum Genet       Date:  2003-04-24       Impact factor: 3.172

5.  A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Authors:  Mitchel J Pariani; Andrew Spencer; John M Graham; David L Rimoin
Journal:  Eur J Med Genet       Date:  2009-03-28       Impact factor: 2.708

6.  A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features.

Authors:  Ali Y Mersal; Mahaboob K Basha; Zaina S Brinji; Ghazal Avand
Journal:  J Clin Neonatol       Date:  2013-01
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.