A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review

European Journal of Medical Genetics

Volumn 49, Issue 5, 2006, Pages 402-413

  Courtens, Winnie ^a   Wuyts, Wim ^a   Scheers, Stefaan ^a   Van Luijk, Rob ^a   Reyniers, Edwin ^a   Rooms, Liesbeth ^a   Ceulemans, Berten ^a   Kooy, Frank ^a   Wauters, Jan ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Cardiopathy; Facial dysmorphism; Mental retardation; MLPA analyses; Subtelomeric deletion 18q; Subtelomeric duplication 10p

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 10P; CHROMOSOME 18; CHROMOSOME 18Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEART DISEASE; HUMAN; KARYOTYPE 46,XX; MENTAL DEFICIENCY; MICROSATELLITE MARKER; MOLECULAR PROBE; MONOSOMY; MONOSOMY 18; PARTIAL TRISOMY 10; PHENOTYPE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; STRABISMUS; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MICROSATELLITE REPEATS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; TRANSLOCATION, GENETIC; TRISOMY;

EID: 33749235848     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.01.001     Document Type: Article

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