作者: Purificación Ros-Pérez , Francisco J Regidor , Esmeralda Colino , Cristina Martínez-Payo , Eva Barroso
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摘要: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all them diagnosed beyond the postnatal period, only one was molecularly characterized. We describe first case this unusual in neonatal clinical findings molecular studies undertaken. boy born at term with radiological features indicating diagnosis or hypochondroplasia combined prenatal karyotype (47,XXY). Neonatal FGFR3 mutation screening showed that newborn heterozygous for classic G340R mutation. Microsatellite marker analysis sex chromosome aneuploidy had arisen from a non-disjunction error paternal meiosis I, recombination event pseudoautosomal region 1 (PAR1). Specific appropriate to confirm diagnosis, prognosis, genetic counseling, especially when does not explain abnormal sonographic findings. In present case, observed PAR1 region, although recombinational events paternally derived are much rarer than expected.