HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

[X tetrasomy (48,XXXX karyotype) in a girl with altered behavior].

AbstractINTRODUCTION:
We report the case of a 14-year-old girl with mental retardation and dysmorphic features referred to child psychiatry because of altered behavior at school.
MATERIAL AND METHODS:
Karyotyping (GTG banding), in situ fluorescent hybridization (FISH) and molecular study of parental origin by polymorphic STS were performed.
RESULTS:
Genetic study revealed a 48,XXXX karyotype with a maternal origin of the X-tetrasomy. The mechanism was successive non-dysjunction at meiosis I and II.
CONCLUSIONS:
The interest of this case lies in the rarity of the chromosomal anomaly and its late diagnosis, leading to a failure to adapt the girl's education to her needs, with consequences for her psyche.
AuthorsMaria José Rodado, Irene Manchón Trives, Belén Lledó Bosch, Francisco Galán Sánchez
JournalRevista de psiquiatrí́a y salud mental (Rev Psiquiatr Salud Ment) Vol. 3 Issue 3 Pg. 102-5 (Jul 2010) ISSN: 1888-9891 [Print] Spain
Vernacular TitleTetrasomía X (cariotipo 48,XXXX) en una niña con trastorno de conducta.
PMID23445996 (Publication Type: English Abstract, Journal Article)
CopyrightCopyright © 2010 SEP y SEPB. Published by Elsevier Espana. All rights reserved.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password: