Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

doi:10.1002/ajmg.a.32772

Article

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype.

American journal of medical genetics. Part A - 1 Nov 2009

Schluth-Bolard Caroline, Sanlaville Damien, Labalme Audrey, Till Marianne, Michel-Calemard Laurence, Rafat Azim, Zabot Marie-Thérèse, Nicolino Marc, Guibaud Laurent, Edery Patrick

Abstract excerpt

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Topics

Adult
Chromosomes, Human
Facies
Female
Humans
Infant
Infant, Newborn
Karyotyping
Male
Microsatellite Repeats
Mosaicism
Parents
Phenotype
Pregnancy
Trisomy

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