Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

We describe an uncommon association of deletion 22q11 in a patient with Klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. Whi...

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Bibliographic Details
Published in:Annales de génétique 2000-04, Vol.43 (2), p.105-107
Main Authors: Velagaleti, Gopalrao V.N, Kumar, Anil, Lockhart, Lillian H, Matalon, Reuben
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 22 - genetics
deletion 22q11
Ductus Arteriosus, Patent - genetics
Ductus Arteriosus, Patent - pathology
Gynecology. Andrology. Obstetrics
Humans
In Situ Hybridization
Karyotyping
Klinefelter syndrome
Klinefelter Syndrome - complications
Klinefelter Syndrome - genetics
Male
Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
Medical sciences
patent ductus arteriosus
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Summary:We describe an uncommon association of deletion 22q11 in a patient with Klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with Klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. While this finding may be coincidental, it is important to further evaluate patients when the clinical features are suggestive of a secondary abnormality.
ISSN:0003-3995
DOI:10.1016/S0003-3995(00)01013-3