Report of a new patient with transposition of the great arteries with deletion of 22q11.2

Michael Marble; Eva Morava; Robert Lopez; Maria Pierce; Robert Pierce

doi:10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I

Report of a new patient with transposition of the great arteries with deletion of 22q11.2

Michael Marble, Eva Morava, Robert Lopez, Maria Pierce, Robert Pierce

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

15 Scopus citations

Abstract

We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.

Original language	English
Pages (from-to)	317-318
Number of pages	2
Journal	American Journal of Medical Genetics
Volume	78
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I
State	Published - 24 Jul 1998
Externally published	Yes

Keywords

D-transposition of the great arteries
DiGeorge syndrome
Velo-cardio- facial syndrome

Access to Document

10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I

Cite this

@article{fa70fec6481d4c1db556df051a57236b,

title = "Report of a new patient with transposition of the great arteries with deletion of 22q11.2",

abstract = "We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.",

keywords = "D-transposition of the great arteries, DiGeorge syndrome, Velo-cardio- facial syndrome",

author = "Michael Marble and Eva Morava and Robert Lopez and Maria Pierce and Robert Pierce",

year = "1998",

month = jul,

day = "24",

doi = "10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I",

language = "English",

volume = "78",

pages = "317--318",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Report of a new patient with transposition of the great arteries with deletion of 22q11.2

AU - Marble, Michael

AU - Morava, Eva

AU - Lopez, Robert

AU - Pierce, Maria

AU - Pierce, Robert

PY - 1998/7/24

Y1 - 1998/7/24

N2 - We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.

AB - We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild.

KW - D-transposition of the great arteries

KW - DiGeorge syndrome

KW - Velo-cardio- facial syndrome

UR - http://www.scopus.com/inward/record.url?scp=0031902310&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I

DO - 10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I

M3 - Article

C2 - 9714431

AN - SCOPUS:0031902310

SN - 0148-7299

VL - 78

SP - 317

EP - 318

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

Report of a new patient with transposition of the great arteries with deletion of 22q11.2

Abstract

Keywords

Access to Document

Fingerprint

Cite this