Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects-Reference-Cited by-同舟云学术

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Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects

Published:2023-11-11 Issue:1 Volume:33 Page:50-54
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Singh Kanika¹,Lall Meena¹,Agarwal Shruti¹,D Puri Ratna¹

Affiliation:

1. Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Two 46, XX, t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp223.;Al-Gazali;J Med Genet,1990

2. Twin brothers with MIDAS syndrome and XX karyotype.;Anguiano;Am J Med Genet A,2003

3. Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.;Bukvic;Am J Med Genet A,2010

4. Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature.;Bouayed Abdelmoula;Ann Genet,2003

5. MIDAS syndrome in a 46,XX newborn with ambiguous genitalia and a cryptic, de novo X;Y translocation.;Camacho;Am J Hum Genet,1997

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