2026-07-25T20:26:15Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/140042025-03-12T09:41:54Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5614
Repisalud
author
Rodríguez, Laura
author
Martinez-Fernandez, Maria Luisa
author
Mansilla, Elena
author
Blanco Soto, Paula
author
Martín Sanz, Feliciano
author
Martínez-Frías, María Luisa
2022-04-18T11:17:14Z
2022-04-18T11:17:14Z
2005-10
Boletín del ECEMC: Rev Dismor Epidemiol 2005; V (nº 4): 14-18
0210–3893
Boletín del ECEMC: Revista de Dismorfología y Epidemiología
http://hdl.handle.net/20.500.12105/14004
The partial trisomy 7q is characterized by the presence of dysmorphic features, low birth weight, hypotonia, renal and skeletal anomalies, pulmonary hypoplasia and cardiac defects. The subtelomeric 20p monosomy, is a very rare anomaly which has only being reported in a patient with developmental delay and microcephaly, dysmorphism, and seizures. We report on a new case with partial trisomy 7q with facial dysmorphism and psychomotor delay, whose high resolution G-band karyotype showed an abnormal chromosome 20. Fluorescence in situ hybridization (FISH) analysis showed that in the short arm of the chromosome 20 (20p) there was extra material from chromosome 7 origin. Thus the infant has partial trisomy 7q and a subtelomeric monosomy 20p. Paternal chromosomes were normal. The karyotype was 46,XY,add(20)(p13).ish der(20)t(7;20)(q33;p13)(tel20p-)(WCP20-)(tel 7q+) "de novo".
spa
Trisomía parcial 7q y monosomía subtelomérica 20p. Presentación clínica de un caso y revisión
research article
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URL
https://repisalud.isciii.es/bitstreams/53c4dafd-bf5e-4a8f-a939-b7d5c87d54e2/download
File
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application/pdf
TrisomíaParcial7qMonosomía_2005.pdf
URL
https://repisalud.isciii.es/bitstreams/210c2575-c0b7-4ddc-b758-4c7d66d3c110/download
File
MD5
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text/plain
TrisomíaParcial7qMonosomía_2005.pdf.txt