Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay

American Journal of Medical Genetics, Part A

Volumn 143, Issue 10, 2007, Pages 1091-1099

  Sauter, S M ^a,e   Böhm, Detlef ^a   Bartels, Iris ^a   Burfeind, Peter ^a   Laccone, Franco A ^b   Neesen, Jürgen ^a   Wilken, Bernd ^c   Liehr, Thomas ^d   Zoll, Barbara ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c KLINIKUM KASSEL   (Germany)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^e Centrum für Humangenetik   (Germany)

Author keywords

Developmental delay; Facial dysmorphism; Partial trisomy 19q; Quantitative real time PCR

Indexed keywords

APGAR SCORE; ARTICLE; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 46,XX; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; PARTIAL TRISOMY; PARTIAL TRISOMY 19Q; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPEECH DEVELOPMENT;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 19; DEVELOPMENTAL DISABILITIES; FACIAL ASYMMETRY; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUSCLE HYPOTONIA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRISOMY;

EID: 34248165529     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31686     Document Type: Article

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