Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1

Rearrangements of the region 1q42.13q43 are rare, with only 7 cases reported to date. The imbalances described are usually the result of inherited translocations with other chromosomes. Moreover, few cases of both inter- and intrachromosomal deletions/duplications detected cytogenetically have been described. We report the molecular cytogenetic characterization of an inverted insertion involving the region 1q42.13q43 and segregating in 2 generations of a family. The deletion and the duplication of the same segment were detected in 2 affected family members. SNP array analysis showed the familial origin of the deletion/duplication due to the occurrence of a crossing-over during meiosis. Our report underlines the importance of determining the correct origin of chromosomal aberrations using different molecular cytogenetic tests in order to provide a good estimation of the reproductive risk for the members of the family.

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Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.32570 ◽

2008 ◽

Vol 146A (24) ◽

pp. 3217-3222 ◽

Cited By ~ 8

Author(s):

A. Lindstrand ◽

H. Malmgren ◽

S. Sahlén ◽

H. Xin ◽

J. Schoumans ◽

...

Keyword(s):

Chromosome 1 ◽

Molecular Cytogenetic ◽

Cytogenetic Characterization ◽

Intrachromosomal Rearrangement ◽

Submicroscopic Deletion

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Comprehensive Analyses of White-Handed Gibbon Chromosomes Enables Access to 92 Evolutionary Conserved Breakpoints Compared to the Human Genome

Cytogenetic and Genome Research ◽

10.1159/000381764 ◽

2015 ◽

Vol 145 (1) ◽

pp. 42-49 ◽

Cited By ~ 9

Author(s):

Anja Weise ◽

Nadezda Kosyakova ◽

Martin Voigt ◽

Nadine Aust ◽

Kristin Mrasek ◽

...

Keyword(s):

Human Genome ◽

Copy Number Variant ◽

Molecular Data ◽

Fragile Sites ◽

Segmental Duplications ◽

Molecular Cytogenetic ◽

The Family ◽

Cytogenetic Characterization ◽

Chromosomal Changes

Gibbon species (Hylobatidae) impress with an unusually high number of numerical and structural chromosomal changes within the family itself as well as compared to other Hominoidea including humans. In former studies applying molecular cytogenetic methods, 86 evolutionary conserved breakpoints (ECBs) were reported in the white-handed gibbon (Hylobates lar, HLA) with respect to the human genome. To analyze those ECBs in more detail and also to achieve a better understanding of the fast karyotype evolution in Hylobatidae, molecular data for these regions are indispensably necessary. In the present study, we obtained whole chromosome-specific probes by microdissection of all 21 HLA autosomes and prepared them for aCGH. Locus-specific DNA probes were also used for further molecular cytogenetic characterization of selected regions. Thus, we could map 6 yet unreported ECBs in HLA with respect to the human genome. Additionally, in 26 of the 86 previously reported ECBs, the present approach enabled a more precise breakpoint mapping. Interestingly, a preferred localization of ECBs within segmental duplications, copy number variant regions, and fragile sites was observed.

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Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.41-42 ◽

2020 ◽

pp. 41-42

Author(s):

Д.А. Юрченко ◽

М.Е. Миньженкова ◽

Е.Л. Дадали ◽

Н.В. Шилова

Keyword(s):

Mental Retardation ◽

Congenital Heart ◽

Heart Defects ◽

Clinical Manifestations ◽

Formation Mechanisms ◽

Agenesis Of Corpus Callosum ◽

Molecular Cytogenetic ◽

Inverted Duplication ◽

Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

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