On the Parental Origin of the X Chromosomes in a 49,XXXXX Fetus

Autor:	P. Vergani, Paola Riva, Leda Dalprà, M. G. Tibiletti, Lidia Larizza, Ludovica Volpi
Rok vydání:	1994
Předmět:	Proband medicine.medical_specialty Fetus Obstetrics business.industry Meiosis II Obstetrics and Gynecology Prenatal diagnosis Penta X Syndrome medicine.disease Endocrinology Nondisjunction Internal medicine Pediatrics Perinatology and Child Health medicine 49 XXXXX business X chromosome
Zdroj:	Journal of Maternal-Fetal and Neonatal Medicine. 3:235-238
ISSN:	1476-4954 1476-7058
DOI:	10.3109/14767059409017284
Popis:	Intrauterine growth retardation and multiple malformations ascertained by echography allowed prenatal diagnosis of penta X syndrome at the 35th week of gestation. The proband's phenotype at birth was consistent with the antenatal observations and the clinical phenotype described in previous patients. The main clinical features were somatic hypodevelopment as compared to gestational age, craniofacial anomalies, congenital heart defects, and agenesia of the right kidney and ureter. Analysis of X-linked RFLPs in the parents and the proband allowed the maternal origin of the three extra X chromosomes to be established, suggesting consecutive nondisjunction events: one in meiosis I and the second, involving both X chromosomes, in meiosis II. Neither maternal age nor familial recurrence of chromosomal aneuploidies was a predisposing cause for the sequential nondisjunction in this case.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::7fba39dcb652abded2b9269b40af9466 https://doi.org/10.3109/14767059409017284 Zobrazit plný text záznamu