2026-06-15T14:18:58Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/136632025-03-11T14:32:55Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5608

00925njm 22002777a 4500 dc López Grondona, Fermín author Rodriguez, Laura author Mansilla, E author Martinez-Fernandez, Maria Luisa author Arteaga, RM author Gómez-Ullate J author Martínez-Frías, María Luisa author 2003-10 Pure 1p36 deletion is considered a new delineated syndrome that probably is a contiguous gene syndrome, presenting a pattern of clinical manifestation that may be recognizable. This includes moderate to severe psychomotor retardation, hypotonia, microcephaly, postnatal growth retardation, seizures and craniofacial dysmorphism (deep set eyes, low nasal bridge, large anterior fontanelle, midface hypoplasia) which should lead to perform a chromosomal study particularly focussed on this type of deletion. Terminal region 1p is difficult to visualize and its alterations will only be detected in a High Resolution G-band karyotype, followed by Fluorescence in situ Hybridization techniques (FISH). Here we present a case which was diagnosed as having a 1p36.22 deletion with High Resolution G-band karyotype confirmed by telomeric FISH. Boletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 11-14 0210-3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13663 Dismorfología Anomalías congénitas Epidemiología Monosomía 1p36: Un síndrome clínicamente reconocible