Weimer, Jörg

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. [electronic resource] - American journal of medical genetics. Part A Mar 2006 - 488-95 p. digital

Publication Type: Case Reports; Journal Article

1552-4825

10.1002/ajmg.a.31104 doi


Abnormalities, Multiple--genetics
Adolescent
Child
Chromosomes, Human, Pair 8--genetics
Chromosomes, Human, Y--genetics
Face--abnormalities
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Klinefelter Syndrome--pathology
Male
Ring Chromosomes
Speech Disorders--pathology