RESUMEN
Objective To explore the clinical features, cytogenetic and molecular genetics characteristics of trisomy 12 p in neonates. Method The clinical data were reviewed in a neonate with trisomy 12 p confirmed by routine G-banding chromosome karyotype analysis, high throughput sequencing chromosome copy number variation analysis (CNV) and lymphocyte interphase fluorescence in situ hybridization (FISH) . Results The chromosome karyotype in peripheral blood of the neonate was 47, XX, +mar, and the karyotypes of her parents were normal. CNV detected a regional duplication of 12 p13.33-p11.1 (160001-34860000) with a fragment size of 34.7 Mb. Peripheral blood lymphocyte interphase FISH showed that there were 3 signals in the short arm of chromosome 12 in all interphase nuclei of the neonate, and no chimera existed. It was finally confirmed to be trisomy 12 p. Conclusion The combination of clinical features, peripheral blood karyotype analysis, CNV and FISH techniques can effectively confirm the diaganosis of trisomy 12 p.
RESUMEN
Lymphocytic hypophysitis (LH) is an uncommon inflammatory disease of the hypophysis. It's female to male ratio of appearance is 9:1. Pregnant women are more affected during the third trimester of pregnancy or postpartum. Clinical and radiological presentation can simulate a hypophyseal adenoma. We report a nonpregnant 13 years old adolescent, with a trisomy 12p, with panhypopituitarism, diabetes insipidus and a selar tumor. It was necessary to differentiate between a germinoma and a LH. The latter was confirmed with the hypophyseal biopsy.
Asunto(s)
Humanos , Femenino , Embarazo , Adolescente , Diabetes Insípida/etiología , Enfermedades de la Hipófisis/cirugía , Enfermedades de la Hipófisis/complicaciones , Hipopituitarismo/etiología , Trisomía , Diabetes Insípida/cirugía , Enfermedades de la Hipófisis/diagnóstico , Hipopituitarismo/cirugía , Inflamación , Linfocitos/patologíaRESUMEN
Trisomy 12p is an extremely rare disorder, in fact approximately 30 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(12;18), thus the offspring inherit such a gene. In this report, the father's chromosomal arrangement was 46, XY, t(12;18)(p12.1;p11.31) and the mother had a normal chromosomal arrangement. We identified a neonate with a short- neck, round face, prominent forehead, long philtrum, low-set ears, imperforated anus and congenital megacolon. We then carried out a chromosomal study and diagnosed the trisomy 12p. If one or both parents are known carriers, it is strongly suggested to perform amniocentesis or chorionic villus sampling for every pregnancy and it is also recommended that potential parents receive genetic counseling before any pregnancy.