Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat

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AudienciaPúblico en generales_ES
CoberturaMéxicoes_ES
Fecha de ingreso2026-10-05T16:33:25Z
Fecha de publicación2020-01-01
ResumenBackground Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father. Case presentation We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2 years and 9 month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12 Mb duplication of the chromosome 2q34-q37.3 and a 1.49 Mb deletion in the chromosome 4q35.2. Conclusions To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects.es_ES
Doihttps://doi.org/10.1186/s13039-020-00484-4es_ES
URIhttps://riuat.uat.edu.mx/handle/123456789/5234
Idiomaenes_ES
EditorialBMCes_ES
RelaciónMolecular Cytogeneticses_ES
URL relacionadohttps://doi.org/10.1186/s13039-020-00484-4es_ES
DerechosAcceso abierto (Metadatos de producción científica)es_ES
Licenciahttp://purl.org/coar/access_right/c_abf2es_ES
FuenteMolecular Cytogenetics
Palabra claveDuplication 2q34-qteres_ES
Palabra claveDeletion 4q35es_ES
Palabra clave2-qteres_ES
Palabra claveder(4)t(2es_ES
Palabra clave4)(q34es_ES
Palabra claveq35es_ES
Palabra clave2)es_ES
Palabra claveaCGHes_ES
TítuloReport of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pates_ES
TipoArtículoes_ES
ArbitradoHa sido Arbitradoes_ES
AutorPablo Meza-Espinoza, Juan
AutorSainz Gonzalez, Enrique
AutorLeon-Leon, Christian J. N.
AutorArambula Meraz, Eliakym
AutorAlfredo Contreras-Gutierrez, Jose
AutorGarcia-Magallanes, Noemi
AutorMaduena-Molina, Jesus
AutorLuque-Ortega, Fred
AutorCervin-Serrano, Salvador
AutorJudith Picos-Cardenas, Veronica
AutorPablo Meza-Espinoza, Juanes_ES
AutorSainz Gonzalez, Enriquees_ES
AutorLeon-Leon, Christian J. N.es_ES
AutorArambula Meraz, Eliakymes_ES
AutorAlfredo Contreras-Gutierrez, Josees_ES
AutorGarcia-Magallanes, Noemies_ES
AutorMaduena-Molina, Jesuses_ES
AutorLuque-Ortega, Fredes_ES
AutorCervin-Serrano, Salvadores_ES
AutorJudith Picos-Cardenas, Veronicaes_ES
InstituciónUniversidad Autónoma de Tamaulipas
InstituciónUniversidad Autónoma de Tamaulipases_ES
Número1es_ES
URL relacionadahttps://doi.org/10.1186/s13039-020-00484-4
Tipo de artículoIndexado
Tipo de artículoIndexadoes_ES
Volumen13es_ES

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