Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

BMC Pediatrics

Karen E Heath¹  Eva Barroso¹  Cristina Martínez-Payo³  Esmeralda Colino²  Francisco J Regidor²  Purificación Ros-Pérez² 

[1] Institute for Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz and Instituto para la Investigación de La Paz (IdiPAZ), and CIBERER, ISCIII, Madrid, Spain;Department of Pediatrics, Hospital Universitario Puerta de Hierro-Majadahonda, C/Manuel de Falla 1, Majadahonda, 28222, Madrid, Spain;Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain

关键词: Prenatal diagnosis;    Karyotype;    Mutation;    Achondroplasia;    Klinefelter syndrome;   

Others  :  1170752
DOI  :  10.1186/1471-2431-12-88

 received in 2012-03-10, accepted in 2012-06-18,  发布年份 2012

【 摘 要 】

Background

The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken.

Case presentation

The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1).

Conclusion

Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

【 授权许可】

   
2012 Ros-Pérez et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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