Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes)

Jess F Peterson; Kendra Mikulec; John W Grignon Jr; Behnaz Behmaram; Meredith O Cruz; Peter van Tuinen

doi:10.1002/ajmg.a.37250

Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes)

Am J Med Genet A. 2015 Nov;167A(11):2855-7. doi: 10.1002/ajmg.a.37250. Epub 2015 Jul 31.

Authors

Jess F Peterson^{1

2}, Kendra Mikulec³, John W Grignon Jr², Behnaz Behmaram^{1

2}, Meredith O Cruz³, Peter van Tuinen^{1

2}

Affiliations

¹ Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
² Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin.
³ Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin.

PMID: 26227211
DOI: 10.1002/ajmg.a.37250

No abstract available

Keywords: 47,XY,+18; 48,XXY,+18; Edwards syndrome; Klinefelter syndrome; chorionic villus sampling (CVS); mosaicism; non-invasive prenatal testing (NIPT).

MeSH terms

Adult
Chorionic Villi Sampling
Chromosomes, Human, Pair 18
Female
Genetic Counseling
Humans
In Situ Hybridization, Fluorescence
Interphase
Klinefelter Syndrome / diagnosis*
Pregnancy
Prenatal Diagnosis*
Trisomy / diagnosis*
Trisomy 18 Syndrome