Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report

Autor: Elizabeth R. Kerr, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester, Gary M. Stuhlmiller, Anna C.E. Hurst
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-4 (2018)
Molecular Cytogenetics
ISSN: 1755-8166
DOI: 10.1186/s13039-018-0411-3
Popis: Background Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be clinically silent. We present a case of maternal UPD for chromosome 6, a rare condition previously reported less than 20 times. In our patient with a normal phenotype, the condition was discovered through abnormal paternity testing results. Uniparental isodisomy is a rare cause of discordant parentage testing results, but it is an important phenomenon to recognize. Case presentation We present a female born at 32 weeks gestational age with birth weight 10–25%ile when corrected for prematurity. Paternity testing was obtained for legal reasons, and initial results appeared to exclude the alleged father. However, the lab performed additional testing which indicated that the patient was homozygous for maternal alleles for all three tested loci located on chromosome 6. Based on these results, the patient was referred for a medical genetics evaluation for possible maternal uniparental disomy. She presented for her consultation at 10 months of age and appeared to be developing appropriately. Her age-adjusted weight, length, and head circumference were
Databáze: OpenAIRE
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