Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization-Reference-Cited by-同舟云学术

Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

Published:1995-09-11 Issue:3 Volume:58 Page:230-236
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Guo Wen-Jun,Callif-Daley Faith,Zapata Maria Carmen,Miller Marvin E.

Publisher

Wiley

Subject

Genetics (clinical)

Reference20 articles.

1. Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8

2. Inverted tandem duplication generates a duplication deficiency of chromosome 8p

3. Inverted duplication of 8p: Ten new patients and review of the literature

4. Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)

5. Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

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1. Inversions on human chromosomes;American Journal of Medical Genetics Part A;2022-12-10

2. A Case Report of Respiratory Syncytial Virus-Infected 8p Inverted Duplication Deletion Syndrome with Low Natural Killer Cell Activity;The Tohoku Journal of Experimental Medicine;2022

3. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum;Clinical Genetics;2021-12-15

4. Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome;European Journal of Medical Genetics;2021-01

5. 46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study;Genes;2020-12-09