Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference13 articles.
1. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q
2. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation
3. Trisomy (1q) (q42→qter): confirmation of a syndrome
4. Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
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1. Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report;Neonatal Medicine;2022-05-31
2. Identification of Balanced and Unbalanced Complex Chromosomal Rearrangement Involving Chromosomes 1, 11, and 15;Cureus;2021-07-04
3. A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5;Almanac of Clinical Medicine;2020-10-22
4. Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies;Medicine;2017-04
5. Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1;Cytogenetic and Genome Research;2017
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