Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

• Published in: Clinical case reports Vol. 4; no. 3; pp. 265 - 271
• Main Authors: Balbeur, Samuel, Grisart, Bernard, Parmentier, Benoit, Sartenaer, Daniel, Leonard, Pierre‐Emmanuel, Ullmann, Urielle, Boulanger, Sébastien, Leroy, Luc, Ngendahayo, Placide, Lungu‐Silviu, Constantin, Lysy, Philippe, Maystadt, Isabelle
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.03.2016; John Wiley and Sons Inc
• Subjects: Abnormal skin pigmentation pattern; Age; Biopsy; Birth weight; Case Report; Case Reports; Cholesterol; Chromosomes; genomic imprinting; Genotype & phenotype; Intellectual disabilities; intellectual disability; Learning disabilities; maternal uniparental disomy of chromosome 14; Microscopy; Obesity; Patients; Prader–Willi‐like phenotype; precocious puberty; Puberty; Skin; trisomy 14; Urine; precocious puberty; maternal uniparental disomy of chromosome 14; trisomy 14; genomic imprinting; Abnormal skin pigmentation pattern; Prader–Willi‐like phenotype; intellectual disability
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.501

Key Clinical Message Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader–Willi‐like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15‐year‐old girl. Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader–Willi‐like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15‐year‐old girl.