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

Gopalrao V.N. Velagaleti; Anil Kumar; Lillian H. Lockhart; Reuben Matalon

doi:10.1016/S0003-3995(00)01013-3

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

Gopalrao V.N. Velagaleti
, Anil Kumar
, Lillian H. Lockhart
, Reuben Matalon

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

Original language	English (US)
Pages (from-to)	105-107
Number of pages	3
Journal	Annales de Genetique
Volume	43
Issue number	2
DOIs	https://doi.org/10.1016/S0003-3995(00)01013-3
State	Published - 2000
Externally published	Yes

Keywords

Deletion 22q11
Klinefelter syndrome
Patent ductus arteriosus

ASJC Scopus subject areas

Genetics

Access to Document

10.1016/S0003-3995(00)01013-3

Cite this

@article{4c37e35d3c0243369f5fef033bf6d39f,

title = "Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome",

abstract = "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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.",

keywords = "Deletion 22q11, Klinefelter syndrome, Patent ductus arteriosus",

author = "Velagaleti, \{Gopalrao V.N.\} and Anil Kumar and Lockhart, \{Lillian H.\} and Reuben Matalon",

year = "2000",

doi = "10.1016/S0003-3995(00)01013-3",

language = "English (US)",

volume = "43",

pages = "105--107",

journal = "Annales de Genetique",

issn = "0003-3995",

publisher = "Elsevier Masson",

number = "2",

}

TY - JOUR

T1 - Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

AU - Velagaleti, Gopalrao V.N.

AU - Kumar, Anil

AU - Lockhart, Lillian H.

AU - Matalon, Reuben

PY - 2000

Y1 - 2000

N2 - 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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

AB - 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. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

KW - Deletion 22q11

KW - Klinefelter syndrome

KW - Patent ductus arteriosus

UR - https://www.scopus.com/pages/publications/0033798430

UR - https://www.scopus.com/pages/publications/0033798430#tab=citedBy

U2 - 10.1016/S0003-3995(00)01013-3

DO - 10.1016/S0003-3995(00)01013-3

M3 - Article

C2 - 10998453

AN - SCOPUS:0033798430

SN - 0003-3995

VL - 43

SP - 105

EP - 107

JO - Annales de Genetique

JF - Annales de Genetique

IS - 2

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this