First report of management and outcome of pregnancies associated with hereditary orotic aciduria

J. T. Bensen; L. H. Nelson; M. J. Pettenati; S. M. Block; S. W. Brusilow; L. R. Livingstone; B. K. Burton

doi:10.1002/ajmg.1320410408

First report of management and outcome of pregnancies associated with hereditary orotic aciduria

J. T. Bensen^*, L. H. Nelson, M. J. Pettenati, S. M. Block, S. W. Brusilow, L. R. Livingstone, B. K. Burton

^*Corresponding author for this work

Pediatrics

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

5 Scopus citations

Abstract

Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.

Original language	English (US)
Pages (from-to)	426-431
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	41
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320410408
State	Published - Jan 1 1991

Keywords

autosomal recessive inheritance
inversion chromosome 4
orotidine
translocation 11; 22
uridine

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1002/ajmg.1320410408

Cite this

@article{e4431a270cad4549998c3be10be80997,

title = "First report of management and outcome of pregnancies associated with hereditary orotic aciduria",

abstract = "Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.",

keywords = "autosomal recessive inheritance, inversion chromosome 4, orotidine, translocation 11; 22, uridine",

author = "Bensen, {J. T.} and Nelson, {L. H.} and Pettenati, {M. J.} and Block, {S. M.} and Brusilow, {S. W.} and Livingstone, {L. R.} and Burton, {B. K.}",

year = "1991",

month = jan,

day = "1",

doi = "10.1002/ajmg.1320410408",

language = "English (US)",

volume = "41",

pages = "426--431",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - First report of management and outcome of pregnancies associated with hereditary orotic aciduria

AU - Bensen, J. T.

AU - Nelson, L. H.

AU - Pettenati, M. J.

AU - Block, S. M.

AU - Brusilow, S. W.

AU - Livingstone, L. R.

AU - Burton, B. K.

PY - 1991/1/1

Y1 - 1991/1/1

N2 - Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.

AB - Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.

KW - autosomal recessive inheritance

KW - inversion chromosome 4

KW - orotidine

KW - translocation 11; 22

KW - uridine

UR - http://www.scopus.com/inward/record.url?scp=0025719923&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025719923&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1320410408

DO - 10.1002/ajmg.1320410408

M3 - Article

C2 - 1776631

AN - SCOPUS:0025719923

SN - 1552-4825

VL - 41

SP - 426

EP - 431

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

ER -

First report of management and outcome of pregnancies associated with hereditary orotic aciduria

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this