Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH-Reference-Cited by-同舟云学术

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH

Published:2010-06-03 Issue:7 Volume:152A Page:1730-1734
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bukvic N.,Carri V. Delli,Di Cosola M. L.,Pustorino G.,Cesarano C.,Chetta M.,Santacroce R.,Sarno M.,Sessa F.,Longo V.,Novelli A.,Gentile M.,Margaglione M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses;Ballabio;Hum Mol Genet,1992

2. Contiguous gene syndrome due to deletions in the distal short arm of the human X chromosome;Ballabio;Proc Natl Acad Sci USA,1989

3. Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome linked ichthyosis;Bonifas;Proc Natl Acad Sci USA,1987

4. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD;Boycott;Am J Med Genet Part A,2003

5. Telomeres: A diagnosis at the end of the chromosomes;de Vries;J Med Genet,2003

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Chromosome Xp22.3 deletion syndrome with X-linked ichthyosis, Kallmann syndrome, short stature, generalized epilepsy, hearing loss, attention deficit hyperactivity disorder, and intellectual disability – A rare report with review of literature;Journal of Neurosciences in Rural Practice;2024-07-13

2. Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects;Clinical Dysmorphology;2023-11-11

3. Effects of a Plastic-Free Lifestyle on Urinary Bisphenol A Levels in School-Aged Children of Southern Italy: A Pilot Study;Frontiers in Public Health;2021-02-01

4. Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission;BioMed Research International;2020-12-04

5. THE EFFECTS OF THE ENDOCRINE DISRUPTORS AND OF THE HALOGENS ON THE FEMALE REPRODUCTIVE SYSTEM AND ON EPIGENETICS: A BRIEF REVIEW;ACTA MEDICA MEDITERR;2018