Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 373-375, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879590
ABSTRACT
OBJECTIVE@#To carry out cyto- and molecular genetic testing for a child featuring facial dysmorphism and attention deficit and hyperactive disorder.@*METHODS@#The child was subjected to routine peripheral blood lymphocyte chromosomal karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array) analyses.@*RESULTS@#The child's facial dysmorphism included low-set ears, curly ear auricle, protuberance of eyebrow arch, nostril notch, short and flat philtrum and thin upper lip. SNP-array revealed that he has carried a 4.883 Mb deletion at 2q37. His chromosomal karyotype was ultimately determined as 45, XY, der(2;21) (2pter→ 2q37.321p13→ 21p1020p10→ 20pter), der(20) (21qter→ 21q1020q10→ 20qter).@*CONCLUSION@#A rare case of 2q37 deletion syndrome involving three chromosomes was discovered. Combined use of various cyto- and molecular genetic techniques is crucial for the diagnosis of chromosomal abnormalities with complex structures.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Translocação Genética
/
Cromossomos Humanos Par 2
/
Deleção Cromossômica
/
Cromossomos
/
Hibridização in Situ Fluorescente
/
Cariotipagem
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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