Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Prenatal diagnosis of mosaicism for triploidy and trisomy 13
View through CrossRef
AbstractMosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live‐born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.
Title: Prenatal diagnosis of mosaicism for triploidy and trisomy 13
Description:
AbstractMosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies.
Pregnancy continued and a live‐born male was delivered vaginally at 37 weeks.
The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw.
In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy.
Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta.
Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line.
In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother.
Copyright © 2001 John Wiley & Sons, Ltd.
Related Results
PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK
PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK
Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of...
Categories of Cutaneous Mosaicism
Categories of Cutaneous Mosaicism
ABSTRACTIn this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal d...
Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years
Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years
AbstractObjectivesTo evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with po...
Childhood Hyperdiploid Acute Lymphoblastic Leukemia
Childhood Hyperdiploid Acute Lymphoblastic Leukemia
Abstract
Background:
Acute lymphoblastic leukemias (ALL) with 51-67 chromosomes in leukemic cells are defined as high-hyperdiploid (HHD). In childhood...
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience
Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience
Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a hig...
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3‐pter and monosomy 5p14.3‐pter
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3‐pter and monosomy 5p14.3‐pter
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of inte...
Non-invasive prenatal testing of fetal aneuploidies using a new method based on digital droplet PCR and cell free fetal DNA
Non-invasive prenatal testing of fetal aneuploidies using a new method based on digital droplet PCR and cell free fetal DNA
ABSTRACT
Background
Current next generation sequencing (NGS) and microarray based Non-Invasive Prenatal Tests (NIPT), used for ...
A KRT6A Mutation p.Ile462Asn In A Chinese Family With Pachyonychia Congenita, And Identification of Maternal Mosaicism
A KRT6A Mutation p.Ile462Asn In A Chinese Family With Pachyonychia Congenita, And Identification of Maternal Mosaicism
Abstract
Background: Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutation...