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oai: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

00925njm 22002777a 4500 dc Rodríguez, Laura author Martinez-Fernandez, Maria Luisa author Mansilla, Elena author Blanco Soto, Paula author Martín Sanz, Feliciano author Martínez-Frías, María Luisa author 2005-10 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". 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 Trisomía parcial 7q y monosomía subtelomérica 20p. Presentación clínica de un caso y revisión