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Title: Non-mosaic trisomy 16 in a near-term child

Abstract

Trisomy 16 is the most common trisomy in first trimester spontaneous abortions, suggesting a high rate of non-disjunction. While cases of confined placental mosaicism and fetal mosaicism or partial trisomy of chromosome 16 have been reported in term fetuses, there have been no previous reports of a near-term fetus with full trisomy 16, indicating a high rate of selection against such cases. Our patient is a 25 year old Filipino female who underwent obstetrical sonographic evaluation at 32 weeks gestation due to suspicion of intrauterine growth retardation. Evaluation was remarkable for severe growth restriction and multiple dysmorphic features. The fetal karyotype was 47,XX,+16 (20 cells in blood, 30 cells from amniocytes); however, the remainder of the laboratory analysis was unremarkable. The patient went into spontaneous labor at 35 weeks gestation and had noted fetal movement prior to admission, but subsequently delivered a stillborn female fetus with a birthweight of 983 grams. Chromosomes from skin and brain fibroblasts and chorionic villus were examined and all (30 cells each) demonstrated trisomy 16. Fetal autopsy confirmed the presence of multiple major structural defects including facial dismorphism, webbing of the neck and axilla, pulmonary hypoplasia, cardiosplenic syndrome, congenital diaphragmatic hernia, and agenesis of themore » corpus callosum. While full trisomy 16 has previously been thought to be incompatible with fetal survival past the early second trimester, this case demonstrates this premise to be invalid. Previous studies by other laboratories have shown the extra chromosome 16 in aborted cases to be of maternal origin, consistent with a higher rate of maternal vs. paternal non-disjunction. The parental origin results of the present case will be presented.« less

Authors:
;  [1];  [2]
  1. Kapiolani Medical Center, Honolulu, HI (United States)
  2. Tripler Army Medical Center, HI (United States); and others
Publication Date:
OSTI Identifier:
133669
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0399
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 16; CHROMOSOMAL ABERRATIONS; MOSAICISM; NON-DISJUNCTION; INFANTS; HEREDITARY DISEASES; CONGENITAL MALFORMATIONS; KARYOTYPE; GENES; GENETICS

Citation Formats

Donlon, T A, Kuslich, C D, and Murray, J E. Non-mosaic trisomy 16 in a near-term child. United States: N. p., 1994. Web.
Donlon, T A, Kuslich, C D, & Murray, J E. Non-mosaic trisomy 16 in a near-term child. United States.
Donlon, T A, Kuslich, C D, and Murray, J E. 1994. "Non-mosaic trisomy 16 in a near-term child". United States.
@article{osti_133669,
title = {Non-mosaic trisomy 16 in a near-term child},
author = {Donlon, T A and Kuslich, C D and Murray, J E},
abstractNote = {Trisomy 16 is the most common trisomy in first trimester spontaneous abortions, suggesting a high rate of non-disjunction. While cases of confined placental mosaicism and fetal mosaicism or partial trisomy of chromosome 16 have been reported in term fetuses, there have been no previous reports of a near-term fetus with full trisomy 16, indicating a high rate of selection against such cases. Our patient is a 25 year old Filipino female who underwent obstetrical sonographic evaluation at 32 weeks gestation due to suspicion of intrauterine growth retardation. Evaluation was remarkable for severe growth restriction and multiple dysmorphic features. The fetal karyotype was 47,XX,+16 (20 cells in blood, 30 cells from amniocytes); however, the remainder of the laboratory analysis was unremarkable. The patient went into spontaneous labor at 35 weeks gestation and had noted fetal movement prior to admission, but subsequently delivered a stillborn female fetus with a birthweight of 983 grams. Chromosomes from skin and brain fibroblasts and chorionic villus were examined and all (30 cells each) demonstrated trisomy 16. Fetal autopsy confirmed the presence of multiple major structural defects including facial dismorphism, webbing of the neck and axilla, pulmonary hypoplasia, cardiosplenic syndrome, congenital diaphragmatic hernia, and agenesis of the corpus callosum. While full trisomy 16 has previously been thought to be incompatible with fetal survival past the early second trimester, this case demonstrates this premise to be invalid. Previous studies by other laboratories have shown the extra chromosome 16 in aborted cases to be of maternal origin, consistent with a higher rate of maternal vs. paternal non-disjunction. The parental origin results of the present case will be presented.},
doi = {},
url = {https://www.osti.gov/biblio/133669}, journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}