Clinical features of trisomy 12 mosaicism-Report and review

Bo Hong, Janice Zunich, Amanda Openshaw, Reha M. Toydemir

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2017

Fingerprint

Mosaicism
Trisomy
Microarray Analysis
Parturition
Aneuploidy
Eyelids
Fertilization in Vitro
Metaphase
Fluorescence In Situ Hybridization
Karyotype
Nose
Extremities
Chromosomes

Keywords

  • Genomic microarray
  • Mosaicism
  • Trisomy 12

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Clinical features of trisomy 12 mosaicism-Report and review. / Hong, Bo; Zunich, Janice; Openshaw, Amanda; M. Toydemir, Reha.

In: American Journal of Medical Genetics, Part A, 2017.

Research output: Contribution to journalArticle

Hong, Bo ; Zunich, Janice ; Openshaw, Amanda ; M. Toydemir, Reha. / Clinical features of trisomy 12 mosaicism-Report and review. In: American Journal of Medical Genetics, Part A. 2017.
@article{f73b48dab8b84dbda40471ae59a636a7,
title = "Clinical features of trisomy 12 mosaicism-Report and review",
abstract = "Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25{\%} of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.",
keywords = "Genomic microarray, Mosaicism, Trisomy 12",
author = "Bo Hong and Janice Zunich and Amanda Openshaw and {M. Toydemir}, Reha",
year = "2017",
doi = "10.1002/ajmg.a.38194",
language = "English (US)",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",

}

TY - JOUR

T1 - Clinical features of trisomy 12 mosaicism-Report and review

AU - Hong, Bo

AU - Zunich, Janice

AU - Openshaw, Amanda

AU - M. Toydemir, Reha

PY - 2017

Y1 - 2017

N2 - Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

AB - Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

KW - Genomic microarray

KW - Mosaicism

KW - Trisomy 12

UR - http://www.scopus.com/inward/record.url?scp=85016640894&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85016640894&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.38194

DO - 10.1002/ajmg.a.38194

M3 - Article

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

ER -