Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.
Abnormalities, Multiple
/ genetics
Adult
Agenesis of Corpus Callosum
/ genetics
Chromosomes, Human, Pair 11
/ genetics
Comparative Genomic Hybridization
Craniofacial Abnormalities
/ genetics
Cytogenetic Analysis
Developmental Disabilities
/ genetics
Female
Fetal Growth Retardation
/ genetics
Heart Defects, Congenital
/ genetics
Humans
Infant, Newborn
Intellectual Disability
/ genetics
Microcephaly
/ genetics
Muscular Atrophy
/ genetics
Paternal Inheritance
/ genetics
Phenotype
Pregnancy
Tetrasomy
/ genetics
Trisomy
/ genetics
Uniparental Disomy
/ genetics
11q
11q13.4-q14.3
Tetrasomy
Triplication
Journal
Taiwanese journal of obstetrics & gynecology
ISSN: 1875-6263
Titre abrégé: Taiwan J Obstet Gynecol
Pays: China (Republic : 1949- )
ID NLM: 101213819
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
accepted:
30
09
2020
entrez:
26
1
2021
pubmed:
27
1
2021
medline:
21
8
2021
Statut:
ppublish
Résumé
We present tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal isodisomy of uniparental disomy (iso-UPD) for 11q14.3-qter and multiple abnormalities. A 30-year-old primigravid woman was found to have intrauterine growth restriction (IUGR) in the fetus since 28 weeks of gestation, and a 2056-g baby was delivered at 38 weeks of gestation with fetal distress. The baby postnatally manifested hypotonia, microcephaly, facial dysmorphism of micrognathia, retrognathia and low-set ears, ventricular septal defect, atrial septal defect, tricuspid regurgitation and corpus callosum dysgenesis. A single nucleotide polymorphism (SNP) array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed the result of arr 11q13.4q14.3 (71,567,724-89,547,851) × 4, arr 11q14.3q25 (89,466,484-134,942,626) hmz [GRCh37 (hg19)] with a 17.980-Mb triplication of 11q13.4-q14.3 encompassing the genes of GRM5 and MAP6, and loss of heterozygosity for a 45.476-Mb region of 11q14.3-qter consistent with iso-UPD for 11q14.3-qter. Polymorphic DNA marker analysis confirmed paternal iso-UPD for 11q14.3-qter. Cytogenetic analysis of the blood revealed a karyotype of 46,XY,trp(11) (q13.4q14.3). The parental karyotypes were normal. When follow-ups at age 2 years, the neonate manifested physical and psychomotor developmental delay and intellectual disability. Tetrasomy 11q13.4-q14.3 may present the phenotype of IUGR, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.
Identifiants
pubmed: 33494996
pii: S1028-4559(20)30303-X
doi: 10.1016/j.tjog.2020.11.027
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
169-172Informations de copyright
Copyright © 2021. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors have no conflicts of interest relevant to this article.