Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference33 articles.
1. Two patients with terminal deletion 4q;Albrecht;Genet. Couns,2002
2. Trisomy 10qter confirmed by in situ hybridisation;Briscioli;J. Med. Genet.,1993
3. Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient;Caliebe;Clin. Genet.,1997
4. Prenatal diagnosis of partial trisomy 10q (10q25.3→qter) and partial monosomy 18q (18q23→qter);Chen;Prenat. Diagn,2005
5. Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities;Cunniff;Am. J. Med. Genet.,1998
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2. Prenatal diagnosis of Cri-du-Chat syndrome with concomitant distal trisomy 10q syndrome in one fetus with ultrasound anomalies;Taiwanese Journal of Obstetrics and Gynecology;2021-03
3. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum;American Journal of Medical Genetics Part A;2020-09-19
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