Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

American Journal of Medical Genetics

Volumn 140 A, Issue 5, 2006, Pages 488-495

  Weimer, Jörg ^a   Metzke Heidemann, Simone ^a   Plendl, Hansjörg ^a   Caliebe, Almuth ^a   Grunewald, Regina ^a   Õunap, Katrin ^b,c   Tammur, Pille ^b   Jonat, Walter ^a   Bartsch, Oliver ^d,e   Siebert, Reiner ^a   Arnold, Norbert ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b TARTU UNIVERSITY CLINICS   (Estonia)

^c UNIVERSITY OF TARTU   (Estonia)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Chromosomal microdissection; Deleted Y chromosome; Klinefelter syndrome; Minute marker chromosome 8; SMC

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 8; CHROMOSOME MICRODISSECTION; CHROMOSOME MOSAICISM; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; KARYOTYPE 46,XX; KARYOTYPE 47,XX; KARYOTYPE 48,XX; KLINEFELTER SYNDROME; MALE; MARKER CHROMOSOME; PARTIAL TRISOMY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPEECH DISORDER; SRY GENE; TRISOMY 8; Y CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 8; CHROMOSOMES, HUMAN, Y; FACE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; KLINEFELTER SYNDROME; MALE; RING CHROMOSOMES; SPEECH DISORDERS;

EID: 33644869179     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31104     Document Type: Article

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