دورية أكاديمية
أعرض في EDS

A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.

التفاصيل البيبلوغرافية
العنوان: A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.
المؤلفون: Lemskaya NA; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090. lemnat@mcb.nsc.ru., Romanenko SA; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090., Rezakova MA; State Scientific-Research Institute of Physiology and Basic Medicine, Novosibirsk, Russia, 630090., Filimonova EA; State Scientific-Research Institute of Physiology and Basic Medicine, Novosibirsk, Russia, 630090., Prokopov DY; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090., Dolskiy AA; Federal State Budgetary Research Center of Virology and Biotechnology 'VECTOR', Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB 'VECTOR', Rospotrebnadzor), Novosibirsk Region, Koltsovo, Russia, 630559., Perelman PL; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090., Maksimova YV; Novosibirsk State Medical University, Novosibirsk, Russia, 630090.; Novosibirsk Clinical City Hospital No. 1, Novosibirsk, Russia, 630090., Shorina AR; Novosibirsk Clinical City Hospital No. 1, Novosibirsk, Russia, 630090., Yudkin DV; Federal State Budgetary Research Center of Virology and Biotechnology 'VECTOR', Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB 'VECTOR', Rospotrebnadzor), Novosibirsk Region, Koltsovo, Russia, 630559.
المصدر: Molecular cytogenetics [Mol Cytogenet] 2021 Oct 04; Vol. 14 (1), pp. 47. Date of Electronic Publication: 2021 Oct 04.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central
مستخلص: Background: There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived copy of the Prader-Willi/Angelman critical region. Trisomy 9p is the fourth most frequent chromosome anomaly with a clinically recognizable syndrome often accompanied by intellectual disability. Here we report a new case of a patient with maternally derived unique complex sSMC resulting in partial trisomy of both chromosomes 9 and 15 associated with intellectual disability.
Case Presentation: We characterise a supernumerary derivative chromosome 15: 47,XY,+der(15)t(9;15)(p21.2;q13.2), likely resulting from 3:1 malsegregation during maternal gametogenesis. Chromosomal analysis showed that a phenotypically normal mother is a carrier of balanced translocation t(9;15)(p21.1;q13.2). Her 7-year-old son showed signs of intellectual disability and a number of physical abnormalities including bilateral cryptorchidism and congenital megaureter. The child's magnetic resonance imaging showed changes in brain volume and in structural and functional connectivity revealing phenotypic changes caused by the presence of the extra chromosome material, whereas the mother's brain MRI was normal. Sequence analyses of the microdissected der(15) chromosome detected two breakpoint regions: HSA9:25,928,021-26,157,441 (9p21.2 band) and HSA15:30,552,104-30,765,905 (15q13.2 band). The breakpoint region on chromosome HSA9 is poor in genetic features with several areas of high homology with the breakpoint region on chromosome 15. The breakpoint region on HSA15 is located in the area of a large segmental duplication.
Conclusions: We discuss the case of these phenotypic and brain MRI features in light of reported signatures for 9p partial trisomy and 15 duplication syndromes and analyze how the genomic characteristics of the found breakpoint regions have contributed to the origin of the derivative chromosome. We recommend MRI for all patients with a developmental delay, especially in cases with identified rearrangements, to accumulate more information on brain phenotypes related to chromosomal syndromes.
(© 2021. The Author(s).)
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معلومات مُعتمدة: 18-15-00099 Russian Science Foundation
فهرسة مساهمة: Keywords: Balanced reciprocal translocation; Microdissection; Next-generation sequencing; Prader–Willi/Angelman critical region; Resting-state functional MRI (fMRI); Trisomy; Undescended testis
تواريخ الأحداث: Date Created: 20211005 Latest Revision: 20211008
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC8489072
DOI: 10.1186/s13039-021-00565-y
PMID: 34607577
قاعدة البيانات: MEDLINE
الوصف
تدمد:1755-8166
DOI:10.1186/s13039-021-00565-y