López Grondona, FermínRodriguez, LauraMansilla, EMartinez-Fernandez, Maria LuisaArteaga, RMGómez-Ullate JMartínez-Frías, María Luisa2022-02-172022-02-172003-10Boletín del ECEMC: Rev Dismor Epidemiol 2003; V (nº 2): 11-140210-3893http://hdl.handle.net/20.500.12105/13663Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMCPure 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.spaVoRhttp://creativecommons.org/licenses/by-nc-sa/4.0/DismorfologíaAnomalías congénitasEpidemiologíaAtribución-NoComercial-CompartirIgual 4.0 InternacionalV211-14Boletín del ECEMC: Revista de Dismorfología y Epidemiologíaopen access