Anais da VI Reunião Brasileira de Citogenética e Citogenômica

FAMILIAL COMPLEX CHROMOSOMAL REARRANGEMENT WITH AN 18Q DUPLICATION AND 5P DELETION: CLINICAL IMPLICATIONS

Publicado em 13/02/2020 - ISBN: 978-85-5722-425-4

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Título do Trabalho
FAMILIAL COMPLEX CHROMOSOMAL REARRANGEMENT WITH AN 18Q DUPLICATION AND 5P DELETION: CLINICAL IMPLICATIONS
Autores
  • Yanca Gasparini de Oliveira
  • Marília Moreira Montenegro
  • Gustavo Spolador
  • Gil Monteiro Novo-Filho
  • Alexandre Torchio Dias
  • Évelin Aline Zanardo
  • Samar Nasser Chehimi
  • Amom Mendes Nascimento
  • Amanda Brasil de Freitas
  • Gleyson Francisco da Silva Carvalho
  • Mayara Vieira de Souza
  • Rachel S. Honjo
  • Fabricia Andréia Rosa Madia
  • Chong Ae Kim
  • Leslie Domenici Kulikowski
Modalidade
Resumo
Área temática
Citogenética Humana
Data de Publicação
13/02/2020
País da Publicação
Brasil
Idioma da Publicação
Português
Página do Trabalho
https://www.even3.com.br/anais/rbcc2019/146781-familial-complex-chromosomal-rearrangement-with-an-18q-duplication-and-5p-deletion--clinical-implications
ISBN
978-85-5722-425-4
Palavras-Chave
chromosomal rearrangments, cytogenomic, clinical
Resumo
Complex chromosomal rearrangements (CCRs) are rare structural aberrations involving three or more chromosomal breaks, in two or more chromosomes. These rearrangements occur during the spermatogenesis and could be familial (0,09% of newborns cases) or de novo (20% of cases). Nevertheless, there is an increased risk for production of unbalanced gametes, resulting in spontaneous miscarriage and offspring with a clinical phenotype, including a congenital abnormalities and/or intellectual disability. We report a 2-year-old girl, the product of healthy and nonconsaguineous couple. The patient showed an intra uterine growth deficiency in the prenatal period. Physical examination showed developmental delay, intellectual disability, microcephaly, bilateral optic nerve hypoplasia, hypertelorism, proeminet nasal root, pointed ears, jagged teeth, microstomy, hypotonia, heart disease and seizures due to a chromosomal imbalance inherited of a mother complex chromosomal rearrangement. Upon initial analysis, the patient’s karyotype was determined as being 46,XX,add(5)(p15.3)[15]. G-Banding evaluation of the family revealed a 46,XX,t(18;5;10)(18qter->18q11.1::5p11.1;inv(5)(5pter->p11.1)::10q11.1;10qter->10q11.1::18q11.1)[15] karyotype for mother old sister and maternal grandmother, and and 46,XY,t(18;5;10)(18qter->18q11.1::5p11.1;inv(5)(5pter->p11.1)::10q11.1;10qter->10q11.1::18q11.1)[15] karyotype for maternal uncle. The father presents normal karyotype. The patient’s karyotype was therefore redefined as 46,XX,der(5)t(5;18)(5qter->p11.1::18q11.1->18qter). Array analysis revealed a 24.2Mb loss in 5p15.33p14.2 region comprising region involved in Cri-du-chat syndrome, and 48.2Mb gain in 18q12.1q23 region comprising region involved in Edwards syndrome. The study provides evidence that the formation of CCR can have important clinical effects and it’s fundamental to continue studying these complex chromosomal rearrangements for a profound comprehension of how these characteristics are inherited. We highlight the importance of using cytogenomic techniques in the chromosome breakpoints investigation for better understanding the CCRs mechanisms for formation as well as in improving genetic counseling in cases of balanced complex rearrangements.
Título do Evento
VI Reunião Brasileira de Citogenética e Citogenômica
Cidade do Evento
Goiânia
Título dos Anais do Evento
Anais da VI Reunião Brasileira de Citogenética e Citogenômica
Nome da Editora
Even3
Meio de Divulgação
Meio Digital

Como citar

OLIVEIRA, Yanca Gasparini de et al.. FAMILIAL COMPLEX CHROMOSOMAL REARRANGEMENT WITH AN 18Q DUPLICATION AND 5P DELETION: CLINICAL IMPLICATIONS.. In: Anais da VI Reunião Brasileira de Citogenética e Citogenômica. Anais...Goiânia(GO) Hotel Mercure, 2019. Disponível em: https//www.even3.com.br/anais/rbcc2019/146781-FAMILIAL-COMPLEX-CHROMOSOMAL-REARRANGEMENT-WITH-AN-18Q-DUPLICATION-AND-5P-DELETION--CLINICAL-IMPLICATIONS. Acesso em: 03/05/2025

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