Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association
Entity
UAM. Departamento de Obstetricia y Ginecología; UAM. Departamento de PediatríaPublisher
BioMed CentralDate
2012-06-29Citation
10.1186/1471-2431-12-88
BMC Pediatrics 12 (2012): 88
ISSN
1471-2431DOI
10.1186/1471-2431-12-88Editor's Version
http://dx.doi.org/10.1186/1471-2431-12-88Subjects
Achondroplasia; Karyotype; Klinefelter syndrome; Mutation; Prenatal diagnosis; MedicinaRights
© 2012 Ros-Pérez et al.; licensee BioMed Central Ltd.Abstract
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.
Files in this item
Google Scholar:Ros Pérez, Purificación
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Regidor, Francisco J.
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Colino, Esmeralda
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Martínez-Payo, Cristina
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Barroso, Eva
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Heath, Karen Elise
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