The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly

Karoline S. Puder; Richard A. Humes; Robin L. Gold; Erawati V. Bawle; Gregory L. Goyert

doi:10.1016/0002-9378(95)90204-X

The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly

Karoline S. Puder, Richard A. Humes, Robin L. Gold, Erawati V. Bawle, Gregory L. Goyert

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

8 Scopus citations

Abstract

We present a case of prenatally diagnosed interrupted aortic arch with a ventricular septal defect in the presence of maternal congenital heart disease, which led to the detection of segmental monosomy of chromosome 22q11.2 in both patients. The implications of detecting a microdeletion and the importance of a multidisciplinary approach to prenatal diagnosis and counseling are discussed.

Original language	English
Pages (from-to)	239-241
Number of pages	3
Journal	American Journal of Obstetrics and Gynecology
Volume	173
Issue number	1
DOIs	https://doi.org/10.1016/0002-9378(95)90204-X
State	Published - 1995

Keywords

DiGeorge anomaly
congenital heart disease
contiguous gene deletion syndrome
interrupted aortic arch
segmental aneusomy

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10.1016/0002-9378(95)90204-X

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abstract = "We present a case of prenatally diagnosed interrupted aortic arch with a ventricular septal defect in the presence of maternal congenital heart disease, which led to the detection of segmental monosomy of chromosome 22q11.2 in both patients. The implications of detecting a microdeletion and the importance of a multidisciplinary approach to prenatal diagnosis and counseling are discussed.",

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AU - Humes, Richard A.

AU - Gold, Robin L.

AU - Bawle, Erawati V.

AU - Goyert, Gregory L.

PY - 1995

Y1 - 1995

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AB - We present a case of prenatally diagnosed interrupted aortic arch with a ventricular septal defect in the presence of maternal congenital heart disease, which led to the detection of segmental monosomy of chromosome 22q11.2 in both patients. The implications of detecting a microdeletion and the importance of a multidisciplinary approach to prenatal diagnosis and counseling are discussed.

KW - DiGeorge anomaly

KW - congenital heart disease

KW - contiguous gene deletion syndrome

KW - interrupted aortic arch

KW - segmental aneusomy

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JO - American Journal of Obstetrics and Gynecology

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ER -

The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly

Abstract

Keywords

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