Distal Trisomy of 10q with Distal Monosomy of 15q Due to a Paternal Translocation

Sun, Shan; Luo, Fuwei; Song, Huiwen; He, Jian-Ping; Peng, Yun-Sheng

doi:10.1177/147323000903700431

Cited by 2 publications

(2 citation statements)

References 23 publications

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“…In our case, distal trisomy10q is maternally transmitted from a balanced translocation between 6p and 10q with breakpoints at 6p23 and 10q24. Similar parental consequences have been reported in number of cases with involvement of many other autosomes or sex chromosomes [3, 16, 17]. In all such inherited cases, some other rearranged chromosome was always present mostly as monosomy.…”

Section: Discussionsupporting

confidence: 83%

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Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Ganguly

Kadam

2011

Case Reports in Genetics

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Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

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Section: Discussionsupporting

confidence: 83%

“…Since its first description by de Grouchy and Canet [14], over 50 cases have been described with distal trisomy 10q with the breakpoints ranging from 10q22.3 to 10q26.3 [15, 16]. In our case, distal trisomy10q is maternally transmitted from a balanced translocation between 6p and 10q with breakpoints at 6p23 and 10q24.…”

Section: Discussionmentioning

confidence: 69%

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Ganguly

Kadam

2011

Case Reports in Genetics

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Unbalanced Translocations Involving Chromosome Region 10q25.3q26.3 in Patients with Intellectual Disability and Complex Phenotypes

Hryshchenko

Bychkova²,

Tavokina³

et al. 2014

Cytogenet Genome Res

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We describe 2 Ukrainian families with unbalanced reciprocal translocations (RTs) involving the distal part of chromosome 10q. In both families, the fathers were healthy carriers of the RT. Two affected patients from the first family had an ∼2.3-Mb loss at 10q26.3 and an ∼25-Mb gain at 2q35qter, and the patient from the other family had an ∼12.5-Mb loss at 5p15.2pter and an ∼18-Mb gain at 10q25.3q26.3. We assume that intellectual disability (ID) in association with congenital anomalies observed in our patients was the result of the cumulative effect of both gains and losses of the chromosomal regions involved in each translocation. Comparison of the sizes of the deleted and duplicated segments in our families as well as in other published families with translocations affecting the distal part of 10q showed that generally deletions seem to be ∼2 times more harmful than duplications of the same size. The data obtained here may contribute to improve the diagnosis and genetic counseling of families with similar chromosomal imbalances.

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Distal Trisomy of 10q with Distal Monosomy of 15q Due to a Paternal Translocation

Cited by 2 publications

References 23 publications

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Unbalanced Translocations Involving Chromosome Region 10q25.3q26.3 in Patients with Intellectual Disability and Complex Phenotypes

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